phenylephrine-hydrochloride and Syndrome

Obstructive sleep apnea hypopnea syndrome (OSAHS) is a common sleep respiratory disorder characterized by upper respiratory collapse during sleep, with a high prevalence and potentially fatal complications. Currently, maxillary transverse deficiency are considered to be an important pathogenic factor of OSAHS. For patients with poor compliance with positive airway pressure therapy, rapid maxillary expansion can increase the volume and ventilation of the upper respiratory tract, which is an alternative treatment. This paper reviewed the current research on surgically assisted rapid palatal expansion, miniscrew assisted rapid palatal expansion, and distraction osteogenesis maxillary expansion in the treatment of adult OSAHS. By comparing the indications, contraindications, complications, efficacy and long-term stability of the three treatment methods, it provided reference for treatment of patients with OSAHS.. 阻塞性睡眠呼吸暂停低通气综合征（obstructive sleep apnea hypopnea syndrome，OSAHS）是一种常见的睡眠呼吸疾病，其患病率高，有潜在的致死性并发症。目前，上颌横向缺陷被认为是OSAHS的重要致病因素，对持续气道正压通气疗法依从性不佳的患者，上颌快速扩弓可增加上呼吸道容积及通气量，是一种替代治疗方法。本文就外科辅助上颌快速扩弓、种植体支抗辅助上颌快速扩弓、牵张成骨辅助上颌扩弓治疗成人OSAHS的研究现状进行综述，通过对比3种术式的适应证、禁忌证、并发症、疗效及其长期稳定性，为临床治疗方案的选择提供参考。.

Topics: Adult; Humans; Nose; Palatal Expansion Technique; Palate; Sleep Apnea, Obstructive; Syndrome

The pathophysiology of empty nose syndrome (ENS) remains unclear despite significant research. The pathophysiologic mechanism of ENS was systematically reviewed.. MEDLINE and Embase.. Data were systematically reviewed for studies that provided original data on pathophysiology.. A total of 2476 studies were screened, and 19 met the inclusion criteria: 13 case-control and 6 cross-sectional. Nine pathophysiologic themes were identified.• Demographics: ENS symptoms had no relationship with climatic factors.• Symptomatology: ENS patients demonstrated high symptom severity.• Mental health: Anxiety and depression including hyperventilation were reported in >50% of ENS patients and correlated with ENS symptom severity.• Anatomic features: Structural changes in response to turbinate surgery were similar between ENS and non-ENS patients.• Airflow analysis: Airflow parameters were similar between ENS and non-ENS patients after turbinate surgery. On computational fluid dynamic analysis, differences were found on multiple outcomes.• Diagnostic testing: The menthol detection test was impaired in ENS, and cotton placement in the airway improved ENS symptoms.• Cognitive function: Functional magnetic resonance imaging showed activation in emotional processing area during breathing.• Olfactory function: Subjective impairment was reported in ENS, but quantitative measures were similar to non-ENS patients.• Mucosal physiology/innate immunity: Turbinate histopathology in ENS showed a tissue-remodeling pattern. Nasal nitric oxide level was lower in ENS patients.. There is evidence of high comorbid mental health disorders in ENS patients. An abnormal trigeminal-thermoreceptor response may be present in some patients. The influence of altered airflow and the evidence of surgery as the cause for ENS are unclear.

Topics: Cross-Sectional Studies; Humans; Nasal Obstruction; Nose; Nose Diseases; Syndrome; Turbinates

Trigeminal trophic syndrome (TTS) is an exceedingly rare disease that causes facial ulceration, most commonly at the nasal ala. The overall incidence of TTS is not known, with less than 150 cases published in the literature.We searched the United States National Library of Medicine National Institutes of Health (PubMed) using the terms "Trigeminal Trophic Syndrome" and "TTS" as keywords. Publications in all languages were included if an English abstract was available. We reviewed 111 cases of TTS described in 75 publications from 1979 to 2021.Fourteen cases involved surgical reconstruction. Of these, the lesions completely healed in 7 cases (50%), recurred in 5 (36%), and were unspecified in 2 (14%). Reconstruction was completed in a 2 to 3-stage approach in 6 cases; of these, healing without recurrence was observed in 5 cases (83%). When donor tissue from the affected side was used as a basis for reconstruction, healing without recurrence was observed in 2 cases (50%). This is in comparison to the use of contralateral, sensate tissue in which there was healing without recurrence in all 3 cases (100%).The surgical management of TTS remains a topic of controversy. The rates of success remain comparable despite the use of various flap types. However, the use of contralateral, sensate flaps and a staged surgical approach appears to be effective based upon the best available evidence in the literature. Further prospective orretrospective controlled studies are necessary to make more reliable recommendations, though may be challenging given the rarity of TTS.

Topics: Face; Humans; Nose; Skin Ulcer; Syndrome; Ulcer

Laurin-Sandrow syndrome (LSS) is an extremely rare syndrome of mirror hand and leg with less than 20 cases reported in literature. The syndrome has been attributed to a mutation in the MIPOL-1 (mirror-image polydactyly) gene located on locus 14q13.3-q21 coding for CCDC193 (coiled-coli domain containing 193) protein. It is characterised by limb, facial and central nervous system anomalies with the most constant being fibular dimelia with fibular ray duplication, polydactyly with secondary deformities of fixed equinus, knee joint instability and flexion deformity. It is associated less frequently with ulnar dimelia, thumb aplasia/hypoplasia, ulnar ray duplication, symbrachypolydactyly, 'rosette' hands, facial dysmorphism like hypertelorism, broad columella and flat nose, CNS anomalies like aplasia/hypoplasia of corpus callosum, hydrocephalus and muscular dystonia. We report a 2-year-old male child with LSS and perform a literature review to expound on this rare syndrome.

Topics: Abnormalities, Multiple; Child; Child, Preschool; Ectromelia; Foot Deformities, Congenital; Hand Deformities, Congenital; Humans; Male; Nose; Syndrome

Topics: Airway Obstruction; Endoscopy; Humans; Nose; Sleep; Sleep Apnea, Obstructive; Syndrome

Topics: Craniofacial Abnormalities; Esthetics; Facial Bones; Humans; Nose; Orbit; Osteotomy, Le Fort; Syndrome; Zygoma

Topics: Humans; Nasal Obstruction; Nose; Rhinitis, Atrophic; Syndrome; Turbinates

Congenital malformations of the nose can be associated with a variety of syndromes, including solitary median maxillary central incisor syndrome, CHARGE syndrome, Bosma syndrome, median cleft face syndrome, PHACES association, Bartsocas-Papas syndrome, Binder syndrome, duplication of the pituitary gland-plus syndrome and syndromic craniosynsotosis (e.g., Apert and Crouzon syndromes) among other craniofacial syndromes. Imaging with CT and MRI plays an important role in characterizing the nasal anomalies as well as the associated brain and cerebrovascular lesions, which can be explained by the intimate developmental relationship between the face and intracranial structures, as well as certain gene mutations. These conditions have characteristic imaging findings, which are reviewed in this article.

Topics: Abnormalities, Multiple; Craniofacial Abnormalities; Humans; Magnetic Resonance Imaging; Nose; Syndrome; Tomography, X-Ray Computed

Orbital apex syndrome (OAS) is a complex disease caused by a variety of pathological factors, and trauma is one of the main factors/causes. Clinical data of 17 cases of traumatic OAS treated by nasal endoscopic surgery in our department from January 2002 to April 2009 were gathered and reviewed. Among them, the six patients presented with OAS after injury to the lateral wall of orbital apex. Seven other patients exhibited OAS after injury to the medial wall of orbital apex, two displayed OAS after zygomatic trauma, while OAS manifested in the other two patients with craniocerebral trauma 3 days after they had decompressive craniotomy--of them, one was blind in both eyes. In the 17 cases, 6 patients were without light sensation, 1 was blind in both eyes; the sight-chart index of eight patients was 0.1, that of three other patients was 0.1-0.2. Fifteen patients displayed eyeball movement disturbance (disorder) and cornea sensory disturbance (disorder), two were with the eyeball abducent disturbance. After the nasal endoscopic surgeries for OAS performed on the 17, the sight of the most patients was restored in varying degrees. The sight of nine patients was between 0.2 and 0.3, that of two patients was between 0.1 and 0.2, that of the other two patients was 0.1, and that of four patients remained unchanged. The eyeball movement and the cornea esthesia in 15 patients recovered from the surgeries, one patient recovered with good eyeball adducent movement and the cornea esthesia but with eyeball abducent disturbance, the other patient did not make a recovery from the eyeball immobility, cornea anesthesia and ptosis. A follow-up lasting 2 months to 2 years suggested that the 16 patients had stable recovery from the surgeries. Satisfactory results could be achieved in the treatment of traumatic OAS by nasal endoscopic surgery. From objective assessment of the therapeutic effects of traumatic OAS, it can be concluded that if a patient is diagnosed with fractures of the optic canal and the superior and medial walls of orbital apex, nasal endoscopic decompression of superior and medial walls of orbital apex and optic canal via the approach to the sphenoid and ethmoid sinuses is the most ideal operative therapy.

Topics: Decompression, Surgical; Endoscopy; Humans; Nose; Ophthalmologic Surgical Procedures; Orbit; Orbital Fractures; Syndrome

Empty nose syndrome (ENS) is a poorly understood and rare iatrogenic disorder resulting from the destruction of normal nasal tissue. In severe forms, it can be debilitating. In this article, the authors elucidate the distinction between ENS and atrophic rhinitis, and provide a systematic approach to the diagnosis and management of ENS. They urge a judicious and cautious approach to turbinate resection, to help better prevent this sequela of nasal surgery. They state that patients with ENS can be rehabilitated and their quality of life substantially improved with nasal augmentation as a means to help restore nasal anatomy toward the premorbid state.

Topics: Dyspnea; Humans; Iatrogenic Disease; Nasal Obstruction; Nose; Pulmonary Ventilation; Quality of Life; Rhinitis, Atrophic; Syndrome

Topics: Adult; Constriction, Pathologic; Female; Fetal Diseases; Holoprosencephaly; Humans; Incisor; Magnetic Resonance Imaging; Maxilla; Nose; Pregnancy; Prenatal Diagnosis; Stillbirth; Syndrome

Pai syndrome is a rare form of frontonasal dysplasia, first described in 1987. It is a triad consisting of midline cleft of the upper lip, facial skin polyps and central nervous system lipomas. Only 14 cases have been reported in the literature. The authors describe the clinical features, diagnostic workup and treatment of two patients. A review of all cases reported in literature is presented to show the phenotypic variability of this rare syndrome.

Topics: Abnormalities, Multiple; Bone Diseases, Developmental; Child, Preschool; Cleft Lip; Female; Humans; Infant; Infant, Newborn; Labial Frenum; Nasal Cartilages; Nasal Polyps; Nasal Septum; Nose; Syndrome; Treatment Outcome

We report on a newborn infant with characteristics of Laurin-Sandrow syndrome (LSS). She had hypertelorism, flat nose with grooved collumella, "V" shaped mouth with thin lips, 7 well-recognized and fused digits and 1 additional postaxial bilateral appendix on each hand. The right and left feet had 12 and 11 toes, respectively, the 4 external ones were recognizable, and the rest were fused in a uniform mass but with independent nails. There was also a 2.3 cm-long digitiform appendix in the internal part of both feet. Radiographs showed seven metacarpals and seven metatarsals with similar morphology; both hands lacking thumbs. The four lateral-most toes had regular shaped phalanges and the rest were irregular. The left digitiform appendix had three bones and the right only two. Tibiae were shorter than fibulae. Central Nervous System examination showed an abnormally shaped olivary nucleus, cerebellar cortical heterotopias, gray matter ectopias in both spinal cord and hemispheric white matter, marked ventricular dilatation, and moderate diffuse white matter gliosis. Karyotype was 46XX. A complete necropsy study is presented and all reported cases are reviewed focusing on their phenotypic differences and their nosologic classification. We propose the entity LSS only in cases with symmetric tetrameric polysyndactyly, especially cup-shaped hands and mirror feet, in association with nasal anomalies.

Topics: Abnormalities, Multiple; Brain; Ectromelia; Fatal Outcome; Female; Foot Deformities, Congenital; Hand Deformities, Congenital; Humans; Hypertelorism; Infant; Infant, Newborn; Nose; Polydactyly; Radiography; Syndactyly; Syndrome; Thumb; Toes

Binder syndrome, or maxillonasal dysplasia, is an uncommon developmental anomaly characterized by an unusually flat, underdeveloped midface, with an abnormally short nose and a flat nasal bridge. In this article, we review the literature and describe how 3-dimensional laser scanning was used to evaluate the facial morphology of a 12-year-old boy with this syndrome.

Topics: Child; Facial Bones; Facies; Humans; Imaging, Three-Dimensional; Lasers; Male; Malocclusion, Angle Class III; Maxillofacial Abnormalities; Nose; Photography, Dental; Syndrome

In 1966, Mietens and Weber reported four out of six siblings from a consanguineous couple with growth failure, dislocation of the head of the radii, bilateral flexion contracture of the elbows, short ulnae and radii, bilateral corneal opacities, horizontal and rotational nystagmus, strabismus, small, pointed nose and mild to moderate mental retardation. Since then, only three other cases have been reported. We report on two new cases, a pair of female twins aged 9 years. The patients were born after an uneventful, normal pregnancy, to young and non-consanguineous parents. After birth, physical findings included horizontal nystagmus and dislocation of both elbows because of abnormally short radii and ulnae in both twins. Further clinical examinations showed moderate psychomotor delay with marked language compromise. Karyotypes were normal in both girls. A review of the literature reveals that the Mietens-Weber syndrome is an uncommon disorder with a probable autosomal recessive pattern of inheritance. To our best knowledge, including the two cases reported here, only nine cases have been observed so far. The finding of congenital nystagmus and radii dislocation in a patient with mental retardation is probably nonrandom and is highly suggestive of Mietens-Weber syndrome.

Topics: Abnormalities, Multiple; Arm Bones; Cafe-au-Lait Spots; Child; Elbow; Female; Humans; Intellectual Disability; Joint Dislocations; Microcephaly; Nose; Nystagmus, Pathologic; Strabismus; Syndrome; Twins

Topics: Abnormalities, Multiple; Child; Developmental Disabilities; Diagnosis, Differential; Female; Genetic Diseases, X-Linked; Humans; Hypothyroidism; Mutation; Nose; Prognosis; Scalp; Syndrome; Tooth Loss; Ubiquitin-Protein Ligases

Topics: Abnormalities, Multiple; Anophthalmos; Brain; DNA Mutational Analysis; Eye Abnormalities; Holoprosencephaly; Humans; Magnetic Resonance Imaging; Nose; Syndrome

Most studies agree that post-nasal drip syndrome (PNDS), asthma, gastroesophageal reflux disease (GORD), and laryngopharyngeal reflux (LPR) are the commonest causes of chronic cough in the immunocompetent, non-smoking patient who is not taking an angiotensin-converting enzyme inhibitor. No diagnostic test has been found to define those who are said to have PNDS other than a response to a first-generation antihistamine. Examining the available evidence suggests that mechanical stimulation of the pharynx by mucus is not an adequate theory for the production of cough. Inflammatory mediators in the lower airways are raised in PNDS, cough variant asthma and GORD, and the theory that an inflammatory process is affecting 'one airway' is a plausible one. Nasal disease is more likely to result in cough from the co-existing involvement of the lower airways through an as yet undefined pathway, and eosinophil and mast cell mediation appear a likely mechanism.

Topics: Angiotensin-Converting Enzyme Inhibitors; Asthma; Bronchitis, Chronic; Chronic Disease; Cough; Eosinophilia; Esophagitis, Peptic; Gastroesophageal Reflux; Humans; Mucus; Nose; Syndrome

The case of a 75-year-old Caucasian woman with a trigeminal trophic syndrome (TTS) is presented and discussed. TTS of the ala nasi subsequent to a herpes zoster infection has not been described previously. We provide a review of the literature with insights into the pathogenesis and current therapeutic strategies.

Topics: Aged; Female; Follow-Up Studies; Herpes Zoster; Humans; Nose; Skin Ulcer; Surgical Flaps; Syndrome; Tomography, X-Ray Computed; Treatment Outcome; Trigeminal Neuralgia; Wound Healing

The vast majority of patients with asthma have rhinitis, and rhinitis is a major independent risk factor for asthma in cross-sectional and longitudinal studies. The relationships between rhinitis and asthma can be viewed under the concept that the 2 conditions are manifestations of one syndrome, the chronic allergic respiratory syndrome, in 2 parts of the respiratory tract. At the low end of the syndrome's severity spectrum, rhinitis appears to be the sole manifestation, although pathologic abnormalities in the lower airways are already present. At the higher end, rhinitis is worse, and the lower airways disease becomes clinically evident. Once manifested, the 2 conditions track in parallel in terms of severity. This parallel relationship is influenced by many interactions between the nasal and the lower airways: some interactions stem from the fact that the nasal passages play a major homeostatic role by conditioning inhaled air, but perhaps even more important is the bidirectional interaction that results from the systemic inflammation that is produced after local allergic reactions. Successful management of the chronic allergic respiratory syndrome requires an integrated view of the airways and an understanding of their interactions.

Topics: Asthma; Humans; Lung; Models, Biological; Nose; Respiratory System; Rhinitis, Allergic, Perennial; Rhinitis, Allergic, Seasonal; Syndrome

Topics: Abnormalities, Multiple; Facies; Humans; Language Development Disorders; Nose; Syndrome

Topics: Deafness; Humans; Nose; Pancreatic Diseases; Syndrome

Topics: Adolescent; Dwarfism; Female; Humans; Limb Deformities, Congenital; Male; Nose; Spine; Syndrome

Topics: Adolescent; Child; Child, Preschool; Female; Fingers; Hair; Humans; Infant; Infant, Newborn; Male; Nose; Osteochondrodysplasias; Syndrome

Topics: Fingers; Hair; Humans; Infant, Newborn; Nose; Osteochondrodysplasias; Syndrome

Pai syndrome is a rare congenital disorder first described in 1987. The main clinical features of the syndrome include median cleft of the upper lip, intra-cranial lipoma, and cutaneous polyps. Only four cases have been described previously. This is the fifth who is a twin of Arabian descent to be reported. Full description of the clinico-pathological features and a review of the relevant medical literature is presented. To the best of our knowledge, this is the first case of Pai syndrome in a twin in the English literature.

Topics: Biopsy, Needle; Brain Neoplasms; Cleft Lip; Female; Follow-Up Studies; Humans; Infant, Newborn; Lipoma; Magnetic Resonance Imaging; Nose; Polyps; Skin Neoplasms; Syndrome

Topics: Abnormalities, Drug-Induced; Abnormalities, Multiple; Calcinosis; Diagnosis, Differential; Epiphyses; Female; Fetal Diseases; Humans; Infant, Newborn; Nose; Pregnancy; Prenatal Exposure Delayed Effects; Prognosis; Syndrome; Vitamin K Deficiency; Warfarin

We describe a newborn girl with a lethal sclerosing bone dysplasia leading to prenatal skeletal alterations and microcephaly, proptosis, hypoplastic nose and midface, small jaw, cleft palate, hypertrophied gums, intracranial calcifications, and generalized osteosclerosis. There is a remarkable similarity between our patient and six previously reported infants subsequently categorized as having a distinct entity: Raine syndrome. Autosomal recessive inheritance is postulated based on parental consanguinity in several of the previous cases and in our patient.

Topics: Brain Diseases; Calcinosis; Exophthalmos; Facies; Female; Genes, Recessive; Humans; Infant, Newborn; Nose; Osteosclerosis; Radiography; Syndrome

Cerebro-Oculo-Nasal syndrome; a new multiple congenital anomaly/mental retardation syndrome was first reported by Richieri-Costa and Guion-Almeida in 1993 (Am J Med Genet 47:702-706) in two patients. To the best of our knowledge four additional cases have been reported. The main features of the syndrome are anophthalmia/microphthalmia, abnormal nares, and central nervous system anomalies. In this report, an additional sporadic case of this syndrome is presented. A 6-year-old girl from a non-consanguineous couple with normal prenatal growth parameters and retarded postnatal growth had anophthalmia, uplifted right nares with skin tag, and slight clefting at the tip of the nose, upper lip and gingiva. She also had a high-arched narrow palate, slightly low set ears, hypertelorism, a CNS defect and mental retardation. Additional findings were hypoplastic teeth with dental malocclusion, muscular hypotonia and midline hyperpigmentation over the anterior neck and the abdomen.

Topics: Abnormalities, Multiple; Anophthalmos; Brain; Child; Craniofacial Abnormalities; Female; Growth Disorders; Humans; Intellectual Disability; Nose; Syndrome; Tomography, X-Ray Computed

The combination of complex congenital heart disease (double outlet right ventricle with pulmonary atresia, malalignment ventriculoseptal defect, right-sided aortic arch with left ductus arteriosus) and bladder exstrophy occurred in an infant with Opitz syndrome. Neither of these defects has previously been reported in association with Opitz syndrome. These malformations, which are midline defects, further characterize this syndrome as an impairment in midline development. The spectrum of congenital heart disease and genitourinary anomalies seen in Opitz syndrome is reviewed.

Topics: Abnormalities, Multiple; Bladder Exstrophy; Ear; Echocardiography; Heart Defects, Congenital; Humans; Hypertelorism; Hypospadias; Infant, Newborn; Male; Nose; Pulmonary Atresia; Syndrome; Testis

5p- is a well-defined syndrome, but phenotypic correlations of 5q are poorly described in the literature. We present a case of a female child with interstitial deletion in the 5q13.1q15 region. Comparison of the clinical features of this patient with others reported in the literature suggests an emerging clinical syndrome defined by short stature, failure to thrive, mental retardation, slanting palpebral fissures, malformed ears, short neck and depressed nasal bridge. Based on our endocrine testing, we hypothesize that the short stature could be, in part, due to growth hormone deficiency. The recent assignment of growth hormone receptor gene to the short arm of chromosome 5 and the presence of several genes for growth factors and growth factor receptors on 5q raise interesting possibilities for the explanation of short stature in such cases.

Topics: Adult; Body Height; Child; Chromosome Deletion; Chromosomes, Human, Pair 5; Cleft Palate; Ear; Failure to Thrive; Female; Foot Deformities, Congenital; Growth Disorders; Growth Hormone; Heart Defects, Congenital; Humans; Infant, Newborn; Male; Nose; Pregnancy; Syndactyly; Syndrome

We report here a rare case of Möbius-like syndrome associated with a 1;2 chromosome reciprocal translocation (46,XY,t(1;2)(p22.3;q21.1). The patient had facial diplegia, ptosis, anteverted nostrils, malformed and lowset ears, and slight developmental delay. Since a microdeletion could be present at the breakpoint in a reciprocal translocation, it is possible that the gene responsible for Möbius syndrome is located in this region of chromosome 1.

Topics: Chromosomes, Human, Pair 1; Chromosomes, Human, Pair 2; Developmental Disabilities; Ear; Facial Paralysis; Female; Humans; Infant; Male; Nose; Pregnancy; Syndrome; Translocation, Genetic

Fronto-facio-nasal dysplasia is a rare cause of facial clefts. The syndrome is characterized by paramedian facial clefts which involve the nose and palpebral fissures resulting in defects of the alae nasi and blepharophimosis, lagophthalmos, and S-shaped palpebral fissures. In addition affected children have ocular malformations such as epibulbar dermoids and colobomata of the iris or optic disk and may have a posterior encephalocele; these features distinguish this condition from fronto-nasal dysplasia and early amnion rupture sequence. We describe a child with unilateral features. Unilateral craniofacial clefts are usually assumed to have a low recurrence risk. However, fronto-facio-nasal dysplasia is an autosomal recessive condition and must be considered in any child with paramedian facial clefts.

Topics: Abnormalities, Multiple; Craniofacial Abnormalities; Encephalocele; Eye Abnormalities; Facial Asymmetry; Genes, Recessive; Humans; Infant, Newborn; Male; Nose; Syndrome

Obstruction of the upper airway may cause arousals resulting in daytime sleepiness and cardiovascular disturbances. The upper airway resistance syndrome may easily be overlooked because conventional measurements of oronasal airflow and thoracic and abdominal efforts are not sensitive enough. By measuring esophageal pressure even small disturbances can be detected, but the esophageal gauge may disturb sleep. We conclude that other, less invasive methods like measurements of impedance by forced oscillation technique, or flattening of the inspiratory flow contour could be valid alternatives in the diagnosis of the upper airway resistance syndrome. Other methods, such as measurements of the pulse transit time, phase angle, or systolic blood pressure profile are promising, but need further evaluation.

Topics: Airway Obstruction; Airway Resistance; Arousal; Blood Pressure; Electric Impedance; Equipment Design; Esophagus; Hemodynamics; Humans; Inhalation; Mouth; Nose; Oscillometry; Pressure; Pulmonary Ventilation; Pulse; Sleep Apnea Syndromes; Sleep Stages; Syndrome

Frontonasal malformation (FNM) is a developmental field defect representing abnormal morphogenesis of the frontonasal eminence. The oculoauriculovertebral spectrum (OAVS) has been used to describe a broader range of first and second branchial-arch defects including hemifacial microsomia and Goldenhar's syndrome. A combination of FNM and OAVS has been described in the literature in 13 cases. This condition has been labeled as the oculoauriculofrontonasal syndrome, as well as ophthalmofrontonasal dysplasia. We have evaluated four patients with both FNM and OAVS. The pattern of malformation involves only the craniofacies: they have no vertebral defects, heart disease, or encephaloceles. The categorization of these four individuals and those in the literature raises interesting issues regarding syndrome classification. Originally, it was suggested that perhaps this disorder was a variation of Goldenhar's syndrome. However, now that it has become evident that FNM and OAVS are malformation patterns of etiologic and presumably pathogenetic heterogeneity, a more likely hypothesis is that when these two defects occur together, this represents a unique syndrome pattern. The purpose of this article is to suggest that the combination of OAVS and FNM may be a distinct entity, representing a discreet subset of patients.

Topics: Adolescent; Child, Preschool; Craniofacial Abnormalities; Ear, External; Eyelids; Facial Asymmetry; Female; Frontal Bone; Goldenhar Syndrome; Humans; Male; Nose; Syndrome

We report a patient with Antley-Bixler syndrome and review 13 patients from the literature. The cardinal features of this condition include craniosynostosis, severe mid-face hypoplasia, proptosis, choanal atresia/stenosis, frontal bossing, dysplastic ears, depressed nasal bridge, radiohumeral synostosis, long-bone fractures and femoral bowing, urogenital abnormalities and a normal karyotype. Early death was identified in 54% of the reported cases, usually due to respiratory complications. The oldest patient at the time of follow up was 10 years of age. Intellectual performance has been variable (developmental testing of our patient at 30 months of age showed a range of developmental skills equivalent to 6 to 11 months of age). Chronic respiratory distress, especially if accompanied by periods of apnea, may be important in the causation of mental retardation. Some patients with the syndrome have normal intelligence, which suggests a normally developing brain, particularly if a craniectomy is performed to treat sutural synostosis and indicates that there may be secondary factors (e.g., apnea) playing a role in the mental retardation (as seen in our patient with a history of apnea) in patients with the Antley-Bixler syndrome. Since choanal atresia/stenosis which diminishes the airway passage is a cardinal feature of this syndrome, choanal stenting should be performed on those patients with this finding during infancy to decrease the airway obstruction. All patients followed beyond infancy were ambulatory, including our patient at 35 months of age, who will take steps with assistance. Although most cases are sporadic, there were reports of recurrence in siblings of both sexes in two families, suggesting an autosomal recessive mode of inheritance.

Topics: Abnormalities, Multiple; Adult; Anal Canal; Child, Preschool; Ear; Exophthalmos; Face; Female; Femoral Fractures; Femur; Humans; Male; Nose; Skull; Syndrome; Synostosis

A child with complete syndactyly of cup shaped hands and mirror polysyndactyly of the feet, together with a nasal defect, was identified out of a total of 1,031,439 livebirths. She had a pattern of multiple congenital anomalies which was similar to that first described by Laurin et al in 1964 and by Sandrow et al in 1970. Two more cases with a similar pattern of congenital anomalies have recently been published so this is the fifth reported case with this constellation.

Topics: Abnormalities, Multiple; Female; Foot Deformities, Congenital; Hand Deformities, Congenital; Humans; Infant, Newborn; Nose; Syndactyly; Syndrome

Twenty-six persons with Laband syndrome have been reported in the literature to date. We report two further unrelated cases and suggest that a skeletal anterior open bite and symmetric soft tissue swelling of the vault of the palate be added to the variable features associated with the syndrome. There is clear evidence in the literature of autosomal dominant inheritance but our analysis indicates that in some cases recessive transmission is likely.

Topics: Abnormalities, Multiple; Child; Ear, External; Female; Fibromatosis, Gingival; Foot Deformities, Congenital; Genes, Dominant; Genes, Recessive; Hand Deformities, Congenital; Humans; Intellectual Disability; Male; Nails, Malformed; Nose; Palate; Syndrome; Tooth, Supernumerary

Topics: Abnormalities, Multiple; Congenital Hypothyroidism; Deafness; Dwarfism; Humans; Nose; Syndrome; Tooth Abnormalities

We report on a boy with a direct tandem duplication of 9(q12-q33) and dolichocephaly, beaked nose with prominent philtrum, deep-set eyes, receding small chin, failure to thrive, developmental delay, simian creases, long fingers, stiff joints, and hypoplastic scrotum. This patient is compared to the 5 other reported cases with pure partial dup(9q), and the "trisomy 9q syndrome" described by Turleau et al. [1975].

Topics: Abnormalities, Multiple; Chromosomes, Human, Pair 9; Failure to Thrive; Hand Deformities, Congenital; Humans; Infant, Newborn; Karyotyping; Male; Multigene Family; Nose; Scrotum; Syndrome; Trisomy

A review of the literature pertaining to the uveodermatological syndrome of dogs is presented. This syndrome is marked by depigmentation of the periocular region, lips and nose in association with severe uveitis. Early diagnosis and therapy can prevent serious vision loss. Symptoms and therapy of the cases described in the literature as well as cases seen at the Veterinary Medical Teaching Hospital in Davis/California are discussed.

Topics: Animals; Blindness; Diagnosis, Differential; Dog Diseases; Dogs; Eyelids; Lip; Nose; Pigmentation Disorders; Syndrome; Uveitis

Topics: Abnormalities, Multiple; Exocrine Pancreatic Insufficiency; Failure to Thrive; Humans; Infant; Nose; Syndrome

We report on a family where the propositus had G syndrome, including laryngeal cleft, and another relative had the facial anomalies typical of the BBB syndrome. We review the literature on the BBB and G syndrome, and argue that no clinical or laboratory criteria permit a differential diagnosis of the two syndromes. Therefore, we suggest that they should be considered variable expression of the same gene. The name BBBG syndrome is proposed for the amalgamated syndrome.

Topics: Abnormalities, Multiple; Adult; Diagnosis, Differential; Face; Female; Genes, Dominant; Humans; Hypertelorism; Hypospadias; Infant, Newborn; Intellectual Disability; Larynx; Male; Nose; Pedigree; Syndrome

Several new "syndromes" have been described that have in common facial findings identical or similar to those seen in frontonasal malformation (FNM), previously termed frontonasal dysplasia. Some of those new syndromes are inherited, whereas FNM is an isolated finding. Thus there is a need for differentiation among those conditions. A review of the literature was undertaken to identify and classify the various reports that describe FNM as it occurs alone and in association with a syndrome.

Topics: Classification; Craniosynostoses; Eye Abnormalities; Frontal Bone; Humans; Hypertelorism; Nose; Orofaciodigital Syndromes; Skull; Syndactyly; Syndrome

Topics: Abnormalities, Multiple; Deafness; Exocrine Pancreatic Insufficiency; Humans; Nose; Syndrome

Topics: Abnormalities, Multiple; Child; Ear; Face; Female; Foot Deformities, Congenital; Hand Deformities, Congenital; Humans; Infant; Intellectual Disability; Male; Mouth Abnormalities; Nose; Syndrome

Topics: Abnormalities, Multiple; Blepharoptosis; Growth Disorders; Humans; Limb Deformities, Congenital; Nose; Syndrome

We describe a boy with frontonasal "dysplasia"; cerebral anomalies, including agenesis of corpus callosum and probable Dandy-Walker malformation (absent superior vermis, hypoplastic cerebellum and brain stem, and possible posterior fossa cyst in this case); short neck, relatively long trunk with short limbs; cryptorchidism; and polydactyly of hands and feet. We suspect he has a previously undescribed syndrome of presently unknown cause. We also discuss this case from a developmental field perspective, in view of the unusual combination of cerebral and facial defects.

Topics: Abnormalities, Multiple; Brain; Chromosome Banding; Humans; Infant, Newborn; Male; Nose; Syndrome

We report a new case of Johanson-Blizzard syndrome. The clinical findings with special reference to the dentition are discussed, and the literature is reviewed. The reported case underlines the heterogeneity of ectodermal dysplasias mentioned by Freire-Maia (1971).

Topics: Child; Ectodermal Dysplasia; Female; Humans; Nose; Syndrome; Tooth Abnormalities

Review of published cases of pregnancies in which coumarin derivatives or heparin were administered demonstrates that use of either class of anticoagulant carries substantial risks. Of 418 reported pregnancies in which coumarin derivatives were used, one-sixth resulted in abnormal liveborn infants, one-sixth in abortion or stillbirth and, at most, two-thirds in apparently normal infants. In addition to the expected hemorrhagic complications, fetal effects of coumarin derivative administration include a specific embryopathy and central nervous system abnormalities. All available cases (including unpublished ones) of warfarin embryopathy and central nervous system abnormalities following gestational exposure to coumarin derivatives are reviewed, various complications are tabulated, critical periods of teratogenesis are discussed and possible mechanisms proposed. The use of heparin during gestation does not result in a significantly better outcome of pregnancy. In 135 published cases, the infants in one-eighth were stillborn, in one-fifth premature (a third of whom died) and, again at most, in two-thirds apparently normal. Because of the substantial risks of both clases of anticoagulants, and the inherent risks of pregnancy complicated by the indications for anticoagulation, prevention of pregnancy is usually indicated. If pregnancy occurs, a relatively normal outcome can be anticipated in about two-thirds of the pregnancies regardless of the anticoagulant used. Heparin does not appear to be a clearly superior alternative to coumarin derivatives.

Topics: Abnormalities, Drug-Induced; Adult; Central Nervous System; Chondrodysplasia Punctata; Coumarins; Female; Fetal Death; Fetal Diseases; Gestational Age; Hemorrhage; Heparin; Humans; Infant, Newborn; Male; Nose; Pregnancy; Pregnancy Complications, Cardiovascular; Risk; Syndrome

Empty nose syndrome (ENS) is characterized by paradoxical nasal obstruction that usually occurs after turbinate surgery. Patients with ENS may also experience significant psychiatric symptoms and sleep dysfunction, which negatively affect the quality of life of affected subjects. This study aimed to evaluate sleep impairment and sleepiness in patients with ENS.. Patients with ENS and control participants were recruited prospectively. The Sino-Nasal Outcome Test-25 (SNOT-25), Empty Nose Syndrome 6-item Questionnaire (ENS6Q), Epworth Sleepiness Scale (EpSS), and modified sleep quality index (MSQI) were used to evaluate the participants before and after nasal surgery.. Forty-eight patients with ENS and forty-eight age- and sex-matched control subjects were enrolled. The SNOT-25, ENS6Q, EpSS, and MSQI scores in the ENS group were all significantly higher than those in the control group before and after surgery. After surgery, ENS patients all exhibited significant improvements in SNOT-25, ENS6Q, EpSS, and MSQI scores. Regression analysis revealed that SNOT-25 score was a significant predictor of EpSS and MSQI in preoperative evaluations. ENS patients experiencing daytime sleepiness suffered from significantly more "dryness of nose" and "suffocation" than those not experiencing daytime sleepiness.. Patients with ENS experienced significantly impaired sleep quality and sleepiness. Nasal reconstruction surgery improved the sleep quality of ENS patients. The severity of sleep dysfunction is associated with the severity of ENS symptoms. Recognizing individuals with significant sleep impairment and sleepiness and providing appropriate management are critical issues for ENS patients.

Topics: Disorders of Excessive Somnolence; Humans; Nasal Obstruction; Nose; Nose Diseases; Quality of Life; Sleepiness; Syndrome

Trichorhinophalangeal syndromes (TRPSs) are rare hereditary syndromes with autosomal dominant inheritance. Patients exhibit abnormalities including bulbous pear-shaped nose, broad columella, and long and flat philtrum, fine, sparse, brittle, slow-growing scalp hair, skeletal abnormalities, and short stature. Three families; age at subependymoma surgery, pathogenic TRPS1(NM_014112.5) variant, and subependymoma number are described.

Topics: Fingers; Glioma, Subependymal; Humans; Langer-Giedion Syndrome; Nose; Repressor Proteins; Syndrome

Trigeminal trophic syndrome (TTS) is an uncommon and relatively unknown cause of facial ulceration that occurs after damage to the trigeminal nerve. It characteristically involves non-healing facial ulceration(s) with accompanying anesthesia, paresthesia, and dysesthesia along the distribution of a trigeminal dermatome. The ulcerations are believed to be self-induced in response to paresthesia. The disease is most common in middle-aged women, manifesting as a unilateral crescent-shaped ulceration on the ala nasi, with sparing of the nasal tip. The diagnosis is clinical and mostly based on exclusion of other possible causes of facial ulcerations, with emphasis on neoplasms, infection-associated vasculitis, and factitial disorders. There are no specific histological or laboratory signs. There is no standard treatment protocol; however, a number of different successful strategies have been reported, including pharmaceutical and surgical interventions, transcutaneous nerve stimulation, and simple occlusion dressings. Due to the self-inflicted nature of this disorder, the cornerstone of management is patient education with behavioral modification. Here, we report a case of TTS following herpes zoster ophthalmicus and review the current literature on this subject.

Topics: Face; Female; Humans; Middle Aged; Nose; Paresthesia; Skin Ulcer; Syndrome

Revealing the structural morphology and inner flow field of the upper airway is important for understanding obstructive sleep apnea-hypopnea syndrome (OSAHS) incidence phenomena and pathological diagnosis in children. However, prior work on this topic has been focused on adults and the findings cannot be directly extrapolated to children because of different inducing factors. Therefore, this paper employs a simulation method to investigate upper airway flow characteristics of childhood OSAHS. It is found that the Reynold number changes highly throughout the whole upper airway, and the laminar assumption is no longer suitable for low Reynold number flow, which is much unlike classic fluid mechanics. Turbulent models of Standard k-ω and Spalart-Allmaras were developed prior to suggestion. The simulation is validated by experiments with an error of approximately 20%. Additionally, carried out in this analysis is the influence of adenoidal hypertrophy with different narrow levels. The cross-sectional area, flow velocity, pressure drop and volume rate will change greatly when the narrow level is above 64% of the upper airway, which can be a quantitative explanation for medical intervention if adenoid hypertrophy blocks 2/3 of the upper airway in the common clinical judgment of otorhinolaryngology. It is expected that this paper can be a meaningful instruction on OSAHS surgery plan making as well as recovery evaluation postoperatively.

Topics: Adenoids; Adult; Child; Computer Simulation; Humans; Hypertrophy; Nose; Sleep Apnea, Obstructive; Syndrome

In the United States, the discovery and spread of white-nose syndrome (WNS) has drastically changed how bats and caves are managed. The U.S. National Park Service has been instrumental in the national response to WNS, as it manages extensive cave resources and has a close relationship with the public. However, managers lack information on visitor support for disease prevention measures designed to slow the spread of WNS and minimize human disturbance of vulnerable bat populations. This study utilized the Theory of Planned Behavior to determine how visitor attitudes, subjective norms, and perceived behavioral controls influenced their behavior regarding WNS preventive actions, including participation in educational programming on bats, wearing clothes or shoes in caves that have not been contaminated with the fungus that causes WNS, walking over decontamination mats, and complying with cave closures. During summer of 2019, data were collected using an on-site survey of 1365 visitors to eight U.S. national park units: Oregon Caves, Lava Beds, Carlsbad Caverns, El Malpais, Wind Cave, Jewel Cave, Mammoth Cave, and Cumberland Gap. Visitors were willing to participate in all preventative actions addressed in the survey (77.7%-96.7%). Visitors expressed that engaging in these actions was very desirable (36.0%-65.6%), and their decision to engage in these actions was most strongly influenced by park staff (39.2%-68.8%) or signage (35.5%-61.9%). Attitudes and subjective norms were positive predictors of behavioral intentions for all measures. Perceived behavioral control was not a direct predictor for behavioral intent, but its interaction with attitudes and subjective norms had a moderating influence on intention to comply with multiple WNS preventive actions. With the continued spread of WNS and emergence of other threats to bats, understanding visitor behavioral intent and underlying factors will facilitate successful implementation of preventive actions that are publicly supported and promote conservation of bat populations in U.S. national parks.

Topics: Animals; Ascomycota; Chiroptera; Humans; Intention; Nose; Parks, Recreational; Syndrome; United States

Pseudogymnoascus destructans is a fungal pathogen responsible for a deadly disease among North American bats known as white-nose syndrome (WNS). Since detection of WNS in the United States in 2006, its rapid spread and high mortality has challenged development of treatment and prevention methods, a significant objective for wildlife management agencies. In an effort to mitigate precipitous declines in bat populations due to WNS, we have developed and implemented a multi-year mitigation strategy at Black Diamond Tunnel (BDT), Georgia, singly known as one of the most substantial winter colony sites for tricolored bats (Perimyotis subflavus), with pre-WNS abundance exceeding 5000 individuals. Our mitigation approach involved in situ treatment of bats at the colony level through aerosol distribution of antifungal volatile organic compounds (VOCs) that demonstrated an in vitro ability to inhibit P. destructans conidia germination and mycelial growth through contact-independent exposure. The VOCs evaluated have been identified from microbes inhabiting naturally-occurring fungistatic soils and endophytic fungi. These VOCs are of low toxicity to mammals and have been observed to elicit antagonism of P. destructans at low gaseous concentrations. Cumulatively, our observations resolved no detrimental impact on bat behavior or health, yet indicated a potential for attenuation of WNS related declines at BDT and demonstrated the feasibility of this novel disease management approach.

Topics: Animals; Antifungal Agents; Chiroptera; Humans; Nose; Syndrome; Volatile Organic Compounds

Trigeminal trophic syndrome (TTS) is a rare disorder that presents as ulceration of the nasal ala, and less often ipsilateral cheek, cutaneous lip, and forehead, following damage to the trigeminal nerve. TTS is often very difficult to treat due to anesthesia and paresthesia along the distribution of the trigeminal nerve, which often leads to a large behavioral component of this disease.. In this single case report, a thermoplastic mask was sutured in place overlying the chronic ulcerations of TTS in a 57-year-old man.. Significant re-epithelization of the chronic ulcerations of TTS was seen after only 6 weeks of thermoplastic mask attachment.. While TTS is a chronic and difficult to treat disease, the use of a thermoplastic mask in the treatment of this disease can significantly decrease the self-manipulation component and allow for re-epithelization and healing of the chronic ulcerations.

Topics: Humans; Middle Aged; Nose; Paresthesia; Skin Ulcer; Syndrome; Ulcer

Topics: Encephalocele; Humans; Nose; Syndrome

阻塞性睡眠呼吸暂停低通气综合征（OSAHS）是一种临床常见的睡眠呼吸障碍性疾病，发病率正在逐年上升。上气道扩张肌结构和功能异常是OSAHS的重要致病机制之一。大量研究发现，OSAHS引起的慢性间歇性缺氧（CIH）、高碳酸血症、睡眠片段化可通过各种机制影响上气道扩张肌的结构和功能，形成恶性循环加重病情。因此，本文现就OSAHS与上气道扩张肌的相互关系及可能的机制综述如下。.

Topics: Humans; Muscles; Nose; Sleep Apnea, Obstructive; Syndrome

Topics: Administration, Inhalation; Adult; Aged; Eucalyptol; Female; Flavoring Agents; Follow-Up Studies; Humans; Male; Middle Aged; Nasal Obstruction; Nose; Pilot Projects; Prospective Studies; Quality of Life; Smell; Syndrome; Treatment Outcome; Trigeminal Nerve; Young Adult

Empty nose syndrome (ENS) remains a controversial disease primarily associated with inferior turbinate tissue loss. Cotton placement into the inferior meatus often alleviates ENS symptoms within minutes, but the physiologic explanation for this phenomenon is unknown. Computational fluid dynamics (CFD) was employed to evaluate the mechanisms of altered nasal airflow conferred by cotton testing.. Six ENS patients (12 sides) with pre-existing sinus computed tomography (CT) imaging were enrolled after marked symptomatic improvement (decrease in score on the Empty Nose Syndrome 6-Item Questionnaire [ENS6Q] of >7 points) with office-based cotton testing. The fashioned cotton plug was labeled in situ with iohexol contrast spray, and sinus CT was immediately obtained to detect cotton contouring in the inferior meatus. CT imaging from pre- and post-cotton placement was analyzed using comparative CFD techniques.. After cotton placement, significant symptomatic improvement and reduced ENS6Q scores (16.8 ± 4.1 to 3.1 ± 2.4; p < 0.001) were recorded. Using CFD, cotton placement produced an expected 21% increase in upper airway resistance (p < 0.05). However, a significant shift in the nasal airflow distribution was also detected, with a transition of airflow vectors away from a middle meatus jetstream (-41%; p < 0.002).. Objective CFD assessment confirmed that the cotton test not only increases nasal resistance, but also restores airflow distribution to the inferior meatus in symptomatic ENS patients. These results highlight the potential efficacy of cotton test in ENS patients and further bolster the utility of this tool in identifying appropriate candidates for the inferior meatus augmentation procedure.

Topics: Computer Simulation; Humans; Hydrodynamics; Nasal Obstruction; Nose; Nose Diseases; Syndrome; Tomography, X-Ray Computed; Turbinates

Although cases of empty nose syndrome (ENS) are not very common, the suffering that ENS causes patient is immense and could be very difficult to imagine. Nasal nitric oxide (nNO) is an airway disease biomarker, and its levels increase after endoscopic sinus surgery. The trend of nNO levels in ENS before and after surgical treatment remains unknown. This study aimed to evaluate the role of nNO in ENS.. Patients with ENS who received surgical implantation and with chronic hypertrophic rhinitis (CHR) who underwent turbinoplasty and completed at least 1 year of follow-up were prospectively enrolled. nNO measurements and subjective assessments [SinoNasal Outcome Test (SNOT)-22, Beck Depression Inventory (BDI)-II, and Beck Anxiety Inventory (BAI)] were performed preoperatively and at 3, 6, and 12 months postoperatively.. We enrolled 19 ENS and 12 CHR patients. nNO levels were significantly lower in the ENS than in the CHR patients before surgical treatment (p < 0.001). nNO levels in the ENS patients significantly increased 3 months after implantation and remained plateaued (p = 0.015). BDI-II and BAI scores significantly improved after surgical treatment for the ENS patients but not for the CHR patients; changes in nNO levels correlated well with improvements in BDI-II and BAI scores (p = 0.025 and 0.035, respectively).. nNO significantly increased at third month after surgical treatment and remained plateaued in ENS patients. This increase correlated with improvements in BDI-II and BAI scores. Therefore, nNO may be important in assessing the psychiatric status of empty nose syndrome.

Topics: Adult; Aged; Chronic Disease; Female; Humans; Hypertrophy; Male; Middle Aged; Nitric Oxide; Nose; Nose Diseases; Rhinitis; Syndrome; Young Adult

Empty nose syndrome (ENS) is a rare and debilitating disease with a controversial definition, etiology, and treatment. One puzzling fact is that patients who undergo an endoscopic endonasal approach (EEA) often have resection of multiple anatomic structures, yet seldom develop ENS. In this pilot study, we analyzed and compared the computational fluid dynamics (CFD) and symptoms among post-EEA patients, ENS patients, and healthy subjects.. Computed tomography scans of 4 post-EEA patients were collected and analyzed using CFD techniques. Two patients had significant ENS symptoms based on results of the Empty Nose Syndrome 6-item Questionnaire (score >11), whereas the other 2 were asymptomatic. As a reference, their results were compared with previously published CFD results of 27 non-EEA ENS patients and 42 healthy controls.. Post-EEA patients with ENS symptoms had a similar nasal airflow pattern as non-EEA ENS patients. This pattern differed significantly from that of EEA patients without ENS symptoms and healthy controls. Overall, groups with ENS symptoms exhibited airflow dominant in the middle meatus region and a significantly lower percentage of airflow in the inferior turbinate region (EEA with ENS, 17.74 ± 4.00% vs EEA without ENS, 51.25 ± 3.33% [t test, p < 0.02]; non-EEA ENS, 25.8 ± 17.6%; healthy subjects, 36.5 ± 15.9%) as well as lower peak wall shear stress (EEA with ENS, 0.30 ± 0.13 Pa vs EEA without ENS, 0.61 ± 0.03 Pa [p = 0.003]; non-EEA ENS, 0.58 ± 0.24 Pa; healthy subjects, 1.18 ± 0.81 Pa).. These results suggest that turbinectomy and/or posterior septectomy may have a varying functional impact and that ENS symptoms go beyond anatomy and correlate with aerodynamic changes. The findings open the door for CFD as a potential objective diagnosis tool for ENS.

Topics: Adult; Computational Biology; Computer Simulation; Endoscopy; Female; Humans; Hydrodynamics; Magnetic Resonance Imaging; Male; Middle Aged; Nasal Obstruction; Neurosurgical Procedures; Nose; Olfaction Disorders; Postoperative Complications; Skull Base; Syndrome; Turbinates

Endonasal submucosal implantation has been confirmed to be beneficial for patients with empty nose syndrome (ENS). However, the optimal implantation site has not been defined. This study aimed to evaluate whether lateral nasal wall implantation is superior to inferior nasal wall implantation in terms of clinical benefits and improvements in quality of life.. Retrospective study in a tertiary medical center.. Consecutive ENS patients between 2010 and 2015 with operative histories of inferior turbinectomies and indicated for surgical implantation were enrolled, with at least 1-year follow-up. Patients were divided into lateral and inferior nasal wall groups. SinoNasal Outcome Test (SNOT)-22, Beck Depression Inventory (BDI)-II, and Beck Anxiety Inventory (BAI) were applied before and 1 year after implantation.. Of the total 30 ENS patients analyzed, 14 were in the inferior nasal wall group and 16 were in the lateral nasal wall group. There were no significant intergroup differences in demographic data and preoperative SNOT-22, BDI-II, and BAI scores. Postoperative assessment revealed that the lateral nasal wall group had significantly better SNOT-22 score improvements than the inferior nasal wall group, particularly regarding rhinological symptoms and sleep function.. Lateral nasal wall implantation may provide significantly better clinical outcomes than inferior nasal wall implantation, and thus may be the preferred, more optimal site for implant placement in ENS patients.. 4. Laryngoscope, 128:554-559, 2018.

Topics: Adult; Female; Humans; Male; Middle Aged; Nasal Obstruction; Nose; Nose Diseases; Prosthesis Implantation; Retrospective Studies; Rhinoplasty; Syndrome; Treatment Outcome

Topics: Humans; Nose; Phenotype; Syndrome

Over the years there have been numerous anecdotal reports of nasal tip enlargement and loss of tip definition post rhinoplasty. Subsequent revisionary procedures not only failed to reduce the tip size but aggravated the problem causing an even larger and less defined nasal tip. The final result was often worse than the preop condition and uncorrectable.. Six patients who demonstrated an aggravation of the postop result with subsequent revisionary or secondary surgeries were evaluated to find common causes or circumstances. All patients had 1) worsening of nasal tip result with subsequent procedures, e. g., nasal tip enlargement and/or loss of tip definition with subsequent procedures 2) exhibited substantial postop edema at one or more surgeries and 3) extensive subcutaneous fibrous tissue noted at revisionary procedures.. The nasal scenario described is referred to as postrhinoplasty fibrotic syndrome. It is recommended that if revision surgery is necessary by a surgeon, the scale of the surgery should be smaller than that of the primary operation. If yet another revision is necessary that surgery should be of an even smaller scale than the prior surgery. Augmentation rather than reduction rhinoplasty is clearly a better approach. With the surgical philosophy of smaller and/or less surgery with each revision (should it be necessary) the irreversible condition of postrhinoplasty fibrotic syndrome should be avoidable.

Topics: Fibrosis; Humans; Nose; Reoperation; Retrospective Studies; Rhinoplasty; Syndrome

Somatic truncating variants of the WAC gene have been observed in patients with hematologic malignancies. Furthermore, de novo heterozygous constitutional pathogenic variants of WAC have recently been shown to cause a syndromic form of intellectual disability, DeSanto-Shinawi syndrome. It is unknown whether the constitutional pathogenic variants observed in the intellectual disability syndrome overlap with the somatic pathogenic variants observed in hematologic abnormalities. Herein, we report three patients with constitutional truncating variants of WAC in an attempt to address the above questions. All three of the patients had mild to moderate intellectual disability and dysmorphic features. We then reviewed the phenotypic features of 19 patients with DeSanto-Shinawi syndrome, including the three currently reported ones: eight and seven patients showed a bulbous nasal tip and short fingers, respectively. As for the pathogenetic mechanism, we demonstrated that the expression level of the mRNA derived from the wildtype allele was higher than that derived from the mutated allele, demonstrating nonsense-mediated mRNA decay. This observation makes a haploinsufficiency mechanism likely. Reviews of the constitutional and somatic pathogenic variants observed in patients with hematologic malignancies showed a significant overlap of the two. To date, no patients with DeSanto-Shinawi syndrome have been reported to have developed hematologic abnormalities, except for one of the three patients reported herein who developed leukopenia and thrombocytopenia at the age of 19 years. Larger data sets are required to determine hematologic prognosis of patients with constitutional WAC variants.

Topics: Adaptor Proteins, Signal Transducing; Adult; Child; Developmental Disabilities; Face; Female; Fingers; Frameshift Mutation; Haploinsufficiency; Human Growth Hormone; Humans; Intellectual Disability; Male; Nose; Phenotype; Pregnancy; Syndrome

To investigate the technical points and effectiveness of autogenous costal cartilage transplantation in repair of Binder's syndrome.. Between June 2012 and June 2017, 8 cases of Binder's syndrome were admitted. There were 3 males and 5 females, aged 16-31 years (mean, 22 years). All patients were conformed to the typical manifestations of Binder's syndrome. The autogenous costal cartilage was harvested and carved into the nasal dorsum graft, nasal column graft, and nasal basement graft. Before and after operation, standard pictures of the anterior view, lateral view, and base view were taken to measure facial related parameters of nasal dorsum length, nasal columella-lobule ratio, nasofrontal angle, nasal columella-upper lip angle, nasal tip projection rate, and nasion projection. Then the effectiveness of this surgical procedure for Binder's syndrome was evaluated.. All incisions healed by first intention without acute infections. All patients were followed up 6-36 months, with an average of 18 months. The foreign body sensation in upper lip and scar hyperplasia in thoracic incision occurred in 1 case, respectively. The nasal morphology improved significantly and the coordinated relationships of the nose with the upper lip and face were restored postoperatively. Postoperative parameter measurements were taken in 6 cases. The nasal dorsum length, nasal columella-lobule ratio, nasofrontal angle, nasal columella-upper lip angle, nasal tip projection rate, and nasion projection at preoperation were significantly improved when compared with the values at 6 months after operation (. Autogenous costal cartilage transplantation in repair of Binder's syndrome can obviously improve patients' appearance of the external nose and middle face, and obtain the persistent effectiveness.. 探讨自体肋软骨移植技术修复 Binder 综合征的技术要点及疗效。.. 2012 年 6 月—2017 年 6 月，收治 8 例 Binder 综合征患者。男 3 例，女 5 例；年龄 16～31 岁，平均 22 岁。患者面部均呈 Binder 综合征典型表现。采用自体肋软骨移植技术，将肋软骨雕刻为鼻背盖板、鼻小柱支撑及鼻基底填充进行移植。手术前后摄患者正面观、侧面观以及基底观标准照片，测量鼻背长度、小柱-小叶比、鼻额角、小柱-上唇角、鼻尖突出率、鼻根突出度，并进行统计学分析，评价该术式修复 Binder 综合征的疗效。.. 术后切口均Ⅰ期愈合，未出现急性期感染等。患者均获随访，随访时间 6～36 个月，平均 18 个月。术后 1 例出现上唇异物感，1 例发生胸廓切口瘢痕增生。术后患者鼻部形态明显改善，鼻与上唇及面部的协调关系恢复。6 例完成术后参数测量，术后 6 个月鼻背长度、小柱-小叶比、鼻额角、小柱-上唇角、鼻尖突出率、鼻根突出度均较术前显著改善，差异有统计学意义（. 自体肋软骨移植技术修复 Binder 综合征可明显改善患者鼻部及中面部外观，效果稳定。.

Topics: Adolescent; Adult; Costal Cartilage; Face; Female; Humans; Male; Maxillofacial Abnormalities; Nasal Septum; Nose; Rhinoplasty; Syndrome; Transplantation, Autologous; Young Adult

White-nose syndrome, first diagnosed in North America in 2006, causes mass deaths among bats in North America. We found the causative fungus, Pseudogymnoascus destructans, in a 1918 sample collected in Europe, where bats have now adapted to the fungus. These results are consistent with a Eurasian origin of the pathogen.

Topics: Animals; Ascomycota; Chiroptera; DNA, Fungal; France; History, 19th Century; History, 20th Century; History, 21st Century; Mycoses; North America; Nose; Sequence Analysis, DNA; Syndrome

The potential outcome of a surgical enlargement of internal nasal channels may be a complication of nasal breathing termed the Empty Nose Syndrome (ENS). ENS pathophysiology is not entirely understood because the expansion of air pathways would in theory ease inhalation. The present contribution is aimed at defining the biophysical markers responsible for ENS. Our study, conducted in silico, compares nasal aerodynamics in pre- and post-operative geometries acquired by means of computer tomography from the same individual. In this article, we elucidate and analyse the deviation of airflow patterns and nasal microclimate from the healthy benchmarks. The analysis reveals 53% reduction in flow resistance, radical re-distribution of nasal airflow, as well as dryer and colder nasal microclimate for the post-operative case.

Topics: Adult; Female; Humans; Humidity; Hydrodynamics; Imaging, Three-Dimensional; Nose; Pressure; Stress, Mechanical; Syndrome; Temperature; Tomography, X-Ray Computed

Silent Sinus Syndrome is defined as a painless spontaneous and progressive enophthalmos and hypoglobus with maxillary sinus hypoplasia and orbital floor resorption. It is caused by maxillary sinus atelectasis in a setting of ipsilateral chronic maxillary sinus hypoventilation. The syndrome was first described in 1964 by Montgomery, but the term "Silent Sinus Syndrome" was not coined until 1994 by Soparkar. The aetiology is still controversial: some authors postulate a basal hypoplastic sinus, other suggest an acquired process due to an obstruction of the ostium in the medium meatus. Silent Sinus Syndrome presents in the third to fifth decades of life, very rarely in childhood with no gender predilection and it is usually a unilateral disorder. The symptoms are not shown to be related to chronic sinuses disease. The clinical signs are: enophthalmos, hypoglobus, upper lid retraction secondary to dystopia of the globe, sinking of the eye and orbital asymmetry, deepened upper lid sulcus, disappearance of the palpebral fold line, lagophthalmos, vertical diplopia, malar depression, and facial asymmetry. Extraocular muscle function is generally preserved and usually there is no visual impairment. The diagnosis is confirmed by computed tomography scan of the orbits and paranasal sinuses. The treatment consists of orbital reconstruction and functional rehabilitation of the maxillary sinuses.

Topics: Adult; Bone Resorption; Enophthalmos; Female; Humans; Maxillary Sinus; Natural Orifice Endoscopic Surgery; Nose; Orbit; Paranasal Sinus Diseases; Syndrome

Wildlife diseases have been implicated in the declines and extinctions of several species. The ability of a pathogen to persist outside its host, existing as an "environmental reservoir", can exacerbate the impact of a disease and increase the likelihood of host extinction. Pseudogymnoascus destructans, the fungal pathogen that causes white-nose syndrome in bats, has been found in cave soil during the summer when hibernating bats had likely been absent for several months. However, whether the pathogen can persist over multiple years in the absence of bats is unknown, and long-term persistence of the pathogen can influence whether hibernacula where bats have been locally extirpated due to disease can be subsequently recolonized. Here, we show that P. destructans is capable of long-term persistence in the laboratory in the absence of bats. We cultured P. destructans from dried agar plates that had been kept at 5°C and low humidity conditions (30-40% RH) for more than 5 years. This suggests that P. destructans can persist in the absence of bats for long periods which may prevent the recolonization of hibernation, sites where bat populations were extirpated. This increases the extinction risk of bats affected by this disease.

Topics: Animals; Ascomycota; Chiroptera; Hibernation; Mycoses; New York; Nose; Seasons; Syndrome

Little is known about the positional change of the Le Fort III segment following advancement. To study this, pre- and postoperative computed tomography scans of 18 craniosynosthosis patients were analyzed. The Le Fort III segment movement was measured by creating a reference coordinate system and by superpositioning the postoperative over the preoperative scan. On both the pre- and postoperative scans, four anatomical landmarks were marked: the most anterior point of the left and right foramen infraorbitale, the nasion, and the anterior nasal spine. A significant anterior movement of the four reference points was observed. No significant transversal differences were found. A significant difference between the anterior movement of the nasion and anterior nasal spine was found. In vertical dimension, there was a significant cranial movement of nasion in the study group. In addition, from all patients standardized lateral X-rays were viewed to determine the location and direction of force application that were linked to the outcomes of the three-dimensional movement of the nasion and anterior nasal spine (ANS) and the surgical technique. Conclusively, a significant advancement of the midface can be achieved with Le Fort III distraction osteogenesis in this specific patient group. Counterclockwise movement seemed to be the most dominant movement despite different modes of anchorage.

Topics: Adolescent; Anatomic Landmarks; Cephalometry; Child; Craniosynostoses; Female; Follow-Up Studies; Frontal Bone; Humans; Image Processing, Computer-Assisted; Male; Maxilla; Nasal Bone; Nose; Orbit; Osteogenesis, Distraction; Osteotomy, Le Fort; Syndrome; Tomography, X-Ray Computed; Treatment Outcome; Vertical Dimension; Zygoma

To report a patient with traumatic orbital apex syndrome, who fully recovered visual and extraocular function following surgery. A 34-year-old male presented with visual and extraocular function disorders in his right eye following traffic accident, who was referred to our hospital 5 weeks after accident. The patient underwent endoscopic optic nerve and orbital apex decompression with topical and systemic application of nerve growth factor and steroids after a failed trial of mega-dose intravenous corticosteroids. Visual acuity improved to 20/20 at 3 weeks after surgery, and the right eye globe moved in most directions at 1 year, which remained stable at 3 years. Surgical decompression should be considered even when symptoms have been present for over a month.

Topics: Adult; Decompression, Surgical; Eye Injuries; Follow-Up Studies; Humans; Male; Natural Orifice Endoscopic Surgery; Nose; Optic Nerve Diseases; Orbit; Syndrome; Time Factors; Tomography, X-Ray Computed; Visual Acuity; Visual Fields

The tricho-rhino-phalangeal syndrome type III (TRPS III) is a rare autosomal dominantly inherited condition. The main clinical features are sparse and slow-growing hair and nails, a pear-shaped nose with a bulbous tip, elongated and flat philtrum, thin upper lip, cone-shaped epiphyses of the phalanges, and short stature. All patients have a point mutation in the TRPS1 gene.. In this paper, we present a 13-year-old female with the typical clinical features of TRPS III, extreme growth retardation, severe deformities of both proximal radii resulting in limited extension of the elbows, and chronic renal failure (CRF) in addition. Molecular diagnostics revealed a missense mutation in exon 6 of TRPS1 that she inherited from her father who is also affected with TRPS III, but does not have CRF. In the index patient, the CRF was found to be due to bilateral renal hypodysplasia (RHD).. Beside the renal dysplasia, the girl had severe deformities of the proximal radii - findings which have not been reported so far in TRPS III.

Topics: Abnormalities, Multiple; Adolescent; DNA-Binding Proteins; Female; Fingers; Growth Disorders; Hair Diseases; Humans; Kidney; Kidney Failure, Chronic; Langer-Giedion Syndrome; Nose; Point Mutation; Radius; Repressor Proteins; Syndrome; Transcription Factors

Topics: Cleft Palate; Congenital Abnormalities; Heart Septal Defects, Ventricular; Holoprosencephaly; Humans; Infant, Newborn; Male; Microcephaly; Nose; Syndrome

Given that tricho-rhino-phalangeal syndrome (TRPS) and pseudohypoparathyroidism/pseudopseudohypoparathyroidism (PHP/PPHP) are very rare monogenic disorders that share some features (distinctive facies, short stature, brachydactyly and, in some patients, intellectual disability) that lead to their misdiagnosis in some cases, our objective was to identify clinical, biochemical or radiological signs that could help to distinguish these two syndromes.. We report on two cases, which were referred to the Endocrinology and Pediatric Endocrinology Services for obesity. Clinical evaluation initially suggested the diagnosis of PHP-Ia [phenotype suggestive of Albright hereditary osteodystrophy (AHO) with parathyroid hormone (PTH) resistance] and PPHP (phenotype resembling AHO, without PTH resistance), but (epi)genetic analysis of the GNAS locus ruled out the suspected diagnosis. Further clinical re-evaluation prompted us to suspect TRPS, and this was confirmed genetically.. TRPS was mistakenly identified as PHP/PPHP because of the coexistence of obesity and brachydactyly, with PTH resistance in one of the cases. Specific traits such as sparse scalp hair and a pear-shaped nose, present in both cases, can be considered pathognomonic signs of TRPS, which could help us to reach a correct diagnosis.

Topics: Abnormalities, Multiple; Adult; Base Sequence; Brachydactyly; Child; Diagnosis, Differential; DNA Mutational Analysis; DNA-Binding Proteins; Female; Fingers; Hair; Hand; Humans; Molecular Sequence Data; Mutation; Nose; Obesity; Phenotype; Pseudopseudohypoparathyroidism; Repressor Proteins; Syndrome; Transcription Factors

Tricho-rhino-phalangeal Syndrome (TRPS) is a rare inherited dysplasia affecting hair, nasal structure and fingers. A literature review indicated that since first described, three types of manifestations have been identified. A Table summarising the oral manifestations demonstrates the variety of presentations. A South African male child presented with the syndrome and was found to show premature eruption of permanent teeth, a finding that has not been previously reported. His oro-facial manifestations also included malaligned and unerupted crowded teeth, bulbosity of the nasal tip and an elongated philtrum and evidence of mild intellectual impairment. A protocol has been developed to guide the future management of these cases.

Topics: Abnormalities, Multiple; Child, Preschool; Fingers; Follow-Up Studies; Gingivitis, Necrotizing Ulcerative; Hair; Halitosis; Humans; Male; Mouth Diseases; Nose; Prognathism; Syndrome; Tooth Diseases; Tooth Eruption

Johanson-Blizzard syndrome (JBS) is a rare autosomal recessive syndrome characterized by dysmorphic nasal alae, ectodermal abnormalities, exocrine pancreatic insufficiency and early growth failure. Most patients are diagnosed by clinical criteria prenatally or in early infancy. Nonsense, frame shift and splice-site mutations of the ubiquitin ligase gene (UBR1) lead to early loss of acinar cells in individuals with JBS.. We describe a previously asymptomatic patient with ectodermal dysplasia presenting with sudden onset exocrine pancreatic insufficiency in adolescence. The family reports an identical twin brother with similar symptoms.. This case illustrates that the phenotypic variability of pancreatic involvement in JBS may be subtle and may not manifest until the second decade of life. We suspect that this mild phenotype results from mutations in UBR1 allowing for partial function.

Topics: Abnormalities, Multiple; Adolescent; Anus, Imperforate; Diagnosis, Differential; Ectodermal Dysplasia; Exocrine Pancreatic Insufficiency; Growth Disorders; Hearing Loss, Sensorineural; Humans; Hypothyroidism; Intellectual Disability; Male; Nose; Pancreatic Diseases; Phenotype; Syndrome

Pseudogymnoascus destructans is the causative agent of an emerging infectious disease that threatens populations of several North American bat species. The fungal disease was first observed in 2006 and has since caused the death of nearly six million bats. The disease, commonly known as white-nose syndrome, is characterized by a cutaneous infection with P. destructans causing erosions and ulcers in the skin of nose, ears and/or wings of bats. Previous studies based on sequences from eight loci have found that isolates of P. destructans from bats in the US all belong to one multilocus genotype. Using the same multilocus sequence typing method, we found that isolates from eastern and central Canada also had the same genotype as those from the US, consistent with the clonal expansion of P. destructans into Canada. However, our PCR fingerprinting revealed that among the 112 North American isolates we analyzed, three, all from Canada, showed minor genetic variation. Furthermore, we found significant variations among isolates in mycelial growth rate; the production of mycelial exudates; and pigment production and diffusion into agar media. These phenotypic differences were influenced by culture medium and incubation temperature, indicating significant variation in environmental condition--dependent phenotypic expression among isolates of the clonal P. destructans genotype in North America.

Topics: Animals; Canada; Chiroptera; DNA, Fungal; Fungi; Genetic Variation; Genotype; Mycoses; North America; Nose; Phenotype; Syndrome

Topics: Humans; Male; Middle Aged; Nose; Nose Diseases; Skin Ulcer; Stroke; Syndrome; Trigeminal Nerve Diseases

White-Nose syndrome (WNS) is an emergent infectious disease that has already killed around six million bats in North America and has spread over two thousand kilometers from its epicenter. However, only a few studies on the possible impacts of the fungus on bat hosts were conducted, particularly concerning its implications for bat conservation. We predicted the consequences of WNS spread by generating a map with potential areas for its occurrence based on environmental conditions in sites where the disease already occurs, and overlaid it with the geographic distribution of all hibernating bats in North America. We assumed that all intersection localities would negatively affect local bat populations and reassessed their conservation status based on their potential population decline. Our results suggest that WNS will not spread widely throughout North America, being mostly restricted to the east and southeast regions. In contrast, our most pessimistic scenario of population decline indicated that the disease would threaten 32% of the bat species. Our results could help further conservation plans to preserve bat diversity in North America.

Topics: Animals; Chiroptera; Environment; Fungi; Mycoses; North America; Nose; Syndrome

Brachydactyly is a relatively common congenital abnormality and can be associated with many other malformations. However, brachydactyly in association with absence of nasal bone is rare. Two Chinese siblings with a combination of nasal bone absence and brachydactyly are presented, apparently without other abnormalities. This combination of features do not fit into any previously described syndrome and we suggest that this case represents a new familial syndrome. Molecular genetics screening didn't revealed any specific pathogenic variants in the two siblings.

Topics: Abnormalities, Multiple; Brachydactyly; Comparative Genomic Hybridization; Female; Fingers; Humans; Male; Nose; Syndrome; Toes; Young Adult

White-nose syndrome (WNS) is an emerging disease of hibernating bats associated with cutaneous infection by the fungus Geomyces destructans (Gd), and responsible for devastating declines of bat populations in eastern North America. Affected bats appear emaciated and one hypothesis is that they spend too much time out of torpor during hibernation, depleting vital fat reserves required to survive the winter. The fungus has also been found at low levels on bats throughout Europe but without mass mortality. This finding suggests that Gd is either native to both continents but has been rendered more pathogenic in North America by mutation or environmental change, or that it recently arrived in North America as an invader from Europe. Thus, a causal link between Gd and mortality has not been established and the reason for its high pathogenicity in North America is unknown. Here we show that experimental inoculation with either North American or European isolates of Gd causes WNS and mortality in the North American bat, Myotis lucifugus. In contrast to control bats, individuals inoculated with either isolate of Gd developed cutaneous infections diagnostic of WNS, exhibited a progressive increase in the frequency of arousals from torpor during hibernation, and were emaciated after 3-4 mo. Our results demonstrate that altered torpor-arousal cycles underlie mortality from WNS and provide direct evidence that Gd is a novel pathogen to North America from Europe.

Topics: Animals; Ascomycota; Chiroptera; Dermatomycoses; Europe; Hibernation; Male; North America; Nose; Skin; Syndrome; Virulence

An example of trigeminal trophic syndrome presenting as ulceration of ala nasi in a case of borderline tuberculoid leprosy is reported. To the best of our knowledge, this is only the second case report of this manifestation in leprosy to be documented.

Topics: Biopsy; Humans; Leprosy, Borderline; Leprosy, Tuberculoid; Male; Middle Aged; Nose; Skin Ulcer; Syndrome; Treatment Outcome; Trigeminal Nerve; Trigeminal Nerve Diseases

Medical records of cats with high-rise trauma were reviewed to document the prevalence and clinical manifestations of orofacial injury. Cats were presented over a 10-year period from January 2000 to December 2009. Signalment, weight, number of stories fallen, and survival data were recorded in 84 cats and physical examination findings were obtained from 83 cats. Fourteen of these cats were examined by veterinarians of the Dentistry and Oral Surgery Service. Mean age was 37-months. Mean distance fallen was 2.65 stories, and in the majority of cases the substrate the cat fell on was not recorded Overall, survival was 94.0% when including euthanasia as a cause of death and 98.8% when excluding euthanized patients. Orofacial findings included bilateral epistaxis, hard palate fracture +/- tear of palatal soft tissue, palatal soft tissue bruising, mandibular fracture, mandibular symphyseal separation, tongue injury, facial soft tissue injury, dental trauma, and other oral soft tissue injury. Sixty-six percent of cats suffered some degree of orofacial injury. The population was analyzed for the prevalence of each type of injury. An oronasal fistula was seen in one cat as a complication of an untreated hard palate fracture. Possible etiology of the injuries and treatment options are discussed.

Topics: Accidental Falls; Animals; Cats; Female; Male; Maxillofacial Injuries; Nose; Palate, Hard; Retrospective Studies; Syndrome; Tooth Injuries

Topics: Animals; Ascomycota; Chiroptera; Dermatomycoses; Hibernation; North America; Nose; Syndrome

Topics: Abnormalities, Multiple; Adult; Child; Cleft Lip; Cleft Palate; Ear, External; Eye Abnormalities; Genetic Association Studies; Heart Septal Defects, Atrial; Humans; Infant; Male; Maxilla; Micrognathism; Nose; Syndrome; Thumb

Manitoba-oculo-tricho-anal (MOTA) syndrome is a rare condition defined by eyelid colobomas, cryptophthalmos and anophthalmia/microphthalmia, an aberrant hairline, a bifid or broad nasal tip, and gastrointestinal anomalies such as omphalocele and anal stenosis. Autosomal recessive inheritance had been assumed because of consanguinity in the Oji-Cre population of Manitoba and reports of affected siblings, but no locus or cytogenetic aberration had previously been described.. This study shows that MOTA syndrome is caused by mutations in FREM1, a gene previously mutated in bifid nose, renal agenesis, and anorectal malformations (BNAR) syndrome. MOTA syndrome and BNAR syndrome can therefore be considered as part of a phenotypic spectrum that is similar to, but distinct from and less severe than, Fraser syndrome. Re-examination of Frem1(bat/bat) mutant mice found new evidence that Frem1 is involved in anal and craniofacial development, with anal prolapse, eyelid colobomas, telecanthus, a shortened snout and reduced philtral height present in the mutant mice, similar to the human phenotype in MOTA syndrome.. The milder phenotypes associated with FREM1 deficiency in humans (MOTA syndrome and BNAR syndrome) compared to that resulting from FRAS1 and FREM2 loss of function (Fraser syndrome) are also consistent with the less severe phenotypes resulting from Frem1 loss of function in mice. Together, Fraser, BNAR and MOTA syndromes constitute a clinically overlapping group of FRAS-FREM complex diseases.

Topics: Abnormalities, Multiple; Adolescent; Adult; Anal Canal; Animals; Anorectal Malformations; Anus, Imperforate; Base Sequence; Child; Child, Preschool; Coloboma; Extracellular Matrix Proteins; Eyelids; Female; Fraser Syndrome; Gene Dosage; Hernia, Umbilical; Humans; Hypertelorism; Male; Mice; Molecular Sequence Data; Mutation; Nose; Nose Diseases; Oligonucleotide Array Sequence Analysis; Pedigree; Phenotype; Receptors, Interleukin; Reverse Transcriptase Polymerase Chain Reaction; Syndrome

A newborn evaluated at 20 days old due to occasional nystagmus. Her mother had presented with oculodentodigital dysplasia (ODDD) and glaucoma. The physical examination revealed opaque micro-corneas, and horizontal nystagmus. The tonometry showed 35 mm Hg in OD and 40 mm Hg in OS and the fundus examination was normal. She had a narrow nasal bridge with narrow nostrils, and fourth and fifth finger syndactylyl in both hands. A bilateral trabeculectomy was performed with a good response.. ODDD is a rare autosomal dominant disease with heterogeneous phenotype manifestations. The most frequent cause of loss of visual acuity is the glaucoma, requiring long-term follow up with periodical control of the intraocular pressure (IOP).

Topics: Abnormalities, Multiple; Adult; Corneal Dystrophies, Hereditary; Female; Glaucoma; Humans; Infant, Newborn; Male; Micrognathism; Nose; Nystagmus, Pathologic; Syndactyly; Syndrome; Trabeculectomy

White-nose syndrome (WNS) has caused recent catastrophic declines among multiple species of bats in eastern North America. The disease's name derives from a visually apparent white growth of the newly discovered fungus Geomyces destructans on the skin (including the muzzle) of hibernating bats. Colonization of skin by this fungus is associated with characteristic cutaneous lesions that are the only consistent pathological finding related to WNS. However, the role of G. destructans in WNS remains controversial because evidence to implicate the fungus as the primary cause of this disease is lacking. The debate is fuelled, in part, by the assumption that fungal infections in mammals are most commonly associated with immune system dysfunction. Additionally, the recent discovery that G. destructans commonly colonizes the skin of bats of Europe, where no unusual bat mortality events have been reported, has generated further speculation that the fungus is an opportunistic pathogen and that other unidentified factors are the primary cause of WNS. Here we demonstrate that exposure of healthy little brown bats (Myotis lucifugus) to pure cultures of G. destructans causes WNS. Live G. destructans was subsequently cultured from diseased bats, successfully fulfilling established criteria for the determination of G. destructans as a primary pathogen. We also confirmed that WNS can be transmitted from infected bats to healthy bats through direct contact. Our results provide the first direct evidence that G. destructans is the causal agent of WNS and that the recent emergence of WNS in North America may represent translocation of the fungus to a region with a naive population of animals. Demonstration of causality is an instrumental step in elucidating the pathogenesis and epidemiology of WNS and in guiding management actions to preserve bat populations against the novel threat posed by this devastating infectious disease.

Topics: Animals; Ascomycota; Chiroptera; Europe; Mycoses; North America; Nose; Survival Analysis; Syndrome; Wings, Animal

Topics: Abnormalities, Multiple; Child; Craniosynostoses; Deafness; Fingers; Humans; Male; Microstomia; Nose; Syndrome; Tooth Abnormalities

Topics: Abnormalities, Multiple; Adolescent; Exons; Fingers; Hair Diseases; Humans; Male; Mutation, Missense; Nose; Syndrome

Maxillonasal dysplasia, Binder type (Binder syndrome and nasomaxillary hypoplasia), is a spectrum of deficient nasomaxillary osteocartilaginous framework, deficient nasal soft tissues, and a short columella. The correction of these deformities is challenging, and results are often disappointing. Tissue expansion with multiple bone grafts for nasal augmentation from childhood has been advocated as a means to address the constricted soft tissues. However, bone grafts in children have been associated with unpredictable growth and resorption. Agreeing with the principle of serial nasal augmentation that commences in childhood, we used alloplastic material for tissue expansion followed by definitive reconstructive rhinoplasty at the completion of growth and orthognathic surgery as required. Definitive rhinoplasty mainly used a 1-piece costochondral graft cantilevered to the frontal bone.. Thirty-one patients over a period of 27 years were reviewed. The patients were divided into 2 groups based on the age of presentation, namely, prepubertal and postpubertal. The prepubertal group underwent serial tissue expansion of the constricted nasal envelope with customized silicone implants and final reconstruction by costochondral rhinoplasty at the end of puberty. The postpubertal group underwent 1-stage costochondral rhinoplasty. The definitive rhinoplasty used a cantilevered 1-piece costochondral graft retaining the dorsal periosteum that was dowelled into the frontal sinus wall.. In the prepubertal group (n = 20), 41 silicone implants were placed in the childhood years for tissue expansion of the nasal envelope. One patient developed implant infection, and another required replacement after extrusion. Long-term follow-up showed minimal resorption of the costochondral graft in the pre-expanded prepubertal group and minimal to moderate graft resorption in the postpubertal group.. Successful treatment of maxillonasal dysplasia is dependent on the following: an understanding of the underlying pathologic anatomy, namely, that of the constricted nasal tissues, serial tissue expansion of the nasal envelope in childhood, and definitive costochondral rhinoplasty at the end of growth. Early tissue expansion with the placement of alloplastic silicone implants effectively stretches the constricted nasal soft tissues in Binder syndrome to limit graft resorption after definitive nasal reconstruction with costochondral rib grafts. There is a possible role for similar tissue expansion in the postpubertal patient with alloplastic material before costochondral grafting if the soft tissues are inadequate. Long-term resorption of cantilevered, 1-piece, periosteum-covered costochondral grafts was minimal.

Topics: Adolescent; Age Factors; Biocompatible Materials; Cartilage; Child; Child, Preschool; Female; Follow-Up Studies; Graft Survival; Humans; Infant; Longitudinal Studies; Male; Malocclusion, Angle Class III; Maxillofacial Abnormalities; Nose; Orthognathic Surgical Procedures; Osteotomy, Le Fort; Plastic Surgery Procedures; Postoperative Complications; Prosthesis Implantation; Prosthesis-Related Infections; Retrospective Studies; Rhinoplasty; Silicones; Syndrome; Tissue Expansion; Treatment Outcome; Young Adult

The Kapur-Toriello syndrome (KTS) is a rare multiple congenital anomaly syndrome, with presumed autosomal recessive inheritance based on the initial report of affected siblings. Here we report on a female with multiple anomalies, including cleft lip and palate, coloboma, mental retardation with cerebral atrophy, and imperforate anus who, upon re-evaluation at 30 months, was recognized to have a columella that extended below the nares. This distinctive finding prompted the diagnosis of KTS. This is the 5th report of KTS, and the second female. Interestingly, both female cases also manifest an ano/rectal malformation, suggesting that this should be considered a component manifestation of this rare syndrome.

Topics: Abnormalities, Multiple; Adult; Cleft Lip; Female; Humans; Infant; Infant, Newborn; Male; Nose; Pregnancy; Syndrome

Stickler syndrome is an autosomal dominant disease characterized by various disorders of the eyes and the connective tissues throughout the body. It can arise from a mutation in the collagen associated gene. We present a case of Stickler syndrome with rhegmatogenous retinal detachment.. A 10-years-old boy was referred to us with rhegmatogenous retinal detachment of the right eye. His family history included eye disease and a cleft palate. He had high myopia, vitreous liquefaction and lattice degeneration in the both eye. He also had a cleft palate and a broad nasal bridge. His condition was diagnosed as Stickler syndrome. We performed vitrectomy, scleral buckling and encircling, and silicone oil injection in the right eye. We also did a reattachment of the retina in the right eye.. Pediatric retinal detachment may indicate the presence of Stickler syndrome and a complete examination of the eye as well as a full family history must be obtained in such cases.

Topics: Child; Cleft Palate; Eye Diseases; Fibrillar Collagens; Genes, Dominant; Humans; Injections, Intraocular; Male; Mutation; Myopia; Nose; Retinal Detachment; Scleral Buckling; Silicone Oils; Syndrome; Vitrectomy; Vitreous Body

We report on a father to daughter transmission of Barber-Say syndrome (BSS), a rare, congenital disorder characterized by severe generalized hypertrichosis, macrostomia, ocular telecanthus, bulbous nose and atrophic skin. These two cases further support the autosomal dominant inheritance. Both presented with the typical BSS symptoms but the phenotypic expression in the father was milder. Treatment is challenging for both patients and doctors, requiring a multidisciplinary approach.

Topics: Abnormalities, Multiple; Adult; Atrophy; Child; Eye Diseases; Eyelids; Female; Humans; Hypertrichosis; Karyotyping; Macrostomia; Male; Nose; Skin; Syndrome

Genoa syndrome was first described by Camera et al in 1993 in two patients with semilobar holoprosencephaly (HPE), craniosynostosis and abnormal small hands with cone-shaped epiphyses and hypoplastic terminal phalanges of fingers (OMIM: 601370). In 2001, Lapunzina et al reported a case of craniosynostosis and HPE associated with several other malformations and suggested that these findings could be attributed to a severe form of Genoa syndrome or to a newly recognized syndrome. Endocrinopathies in association with HPE are frequently reported in the literature. Diabetes insipidus, hypothyroidism, hypocortisolism, and growth hormone deficiency are frequently associated with HPE. We here report a case of semilobar HPE, craniosynostosis and cleft lip/palate, possibly a case of Genoa syndrome, associated with central diabetes insipidus.

Topics: Abnormalities, Multiple; Cleft Lip; Cleft Palate; Craniosynostoses; Diabetes Insipidus, Neurogenic; Holoprosencephaly; Humans; Infant; Male; Nose; Syndrome

Maxillonasal dysplasia (Binder's syndrome) is a congenital malformation characterized by an extremely flat and retruded nose.. This report describes an 18-year-old woman with maxillonasal dysplasia (Binder's syndrome). The septal deficiencies and maxillary retrusion of the patient were corrected by using an L-shaped implant and a crescent-shaped high-density porous polyethylene implant through the oral vestibular sulcus via an external rhinoplasty approach.. After the operation, the tip of the nose had moved 5.5 mm anteriorly in the sagittal plane and 11.9 mm coronally in the vertical plane. Also, the nasolabial angle had increased after the surgery. Follow-up evaluation at 24 months showed good correction of the nasal and midface projection.. High-density porous polyethylene implants are a good alternative for patients with Binder's syndrome, especially those who will not accept costal cartilage grafts or orthognathic surgery and who have tendency for hypertrophic scarring.

Topics: Abnormalities, Multiple; Adolescent; Humans; Male; Maxilla; Nose; Polyethylene; Syndrome

Topics: Abnormalities, Multiple; Anophthalmos; Brain; Craniosynostoses; Humans; Infant; Intellectual Disability; Male; Nose; Phenotype; Severity of Illness Index; Skull; Syndrome; Ultrasonography

Trigeminal trophic syndrome (TTS) is a rare but well-described syndrome consisting of the triad: paraesthesia, anaesthesia and crescent-shaped ulceration of the ala nasi. We report a case of a 62-year-old woman presenting with TTS after operative excision of an acusticus neurinoma. She attended several different specialized physicians and multiple biopsies were performed before attention was brought to the syndrome due to a history of trigeminal nerve damage combined with the aforementioned triad.

Topics: Diagnosis, Differential; Female; Humans; Middle Aged; Neuroma, Acoustic; Nose; Paresthesia; Postoperative Complications; Skin Ulcer; Syndrome; Trigeminal Nerve

Topics: Constriction, Pathologic; Facial Bones; Female; Humans; Incisor; Infant, Newborn; Mandible; Maxilla; Nose; Syndrome

Topics: Aged; Female; Humans; Nose; Skin Ulcer; Syndrome; Trigeminal Nerve Diseases

Here we report on 10 male patients with frontonasal dysplasia, cleft lip/palate, mental retardation, lack of language acquisition, and severe central nervous system involvement. Imaging studies disclosed absence of the corpus callosum, midline cysts, and an abnormally modeled cerebellum. Neuronal heterotopias were present in five patients and parieto-occipital encephalocele in three patients. We suggest that this pattern found exclusively in males, most likely represents a newly recognized syndrome distilled from the group of disorders subsumed under frontonasal dysplasia.

Topics: Adult; Brazil; Central Nervous System; Child; Child, Preschool; Developmental Disabilities; Frontal Bone; Humans; Infant; Intellectual Disability; Language Development Disorders; Male; Nose; Syndrome

47 XYY syndrome is a sporadic condition in which the human male receives an extra Y chromosome. Few ocular associations have been documented. The authors report the first case of 47 XYY associated with morning glory syndrome, frontonasal meningoencephalocele, and midfacial defects.

Topics: Abnormalities, Multiple; Acrocallosal Syndrome; Child; Encephalocele; Eye Abnormalities; Frontal Lobe; Humans; Hypertelorism; Karyotyping; Magnetic Resonance Imaging; Male; Meningocele; Nose; Optic Disk; Syndrome; XYY Karyotype

An autosomal-recessive syndrome of bifid nose and anorectal and renal anomalies (BNAR) was previously reported in a consanguineous Egyptian sibship. Here, we report the results of linkage analysis, on this family and on two other families with a similar phenotype, which identified a shared region of homozygosity on chromosome 9p22.2-p23. Candidate-gene analysis revealed homozygous frameshift and missense mutations in FREM1, which encodes an extracellular matrix component of basement membranes. In situ hybridization experiments demonstrated gene expression of Frem1 in the midline of E11.5 mouse embryos, in agreement with the observed cleft nose phenotype of our patients. FREM1 is part of a ternary complex that includes FRAS1 and FREM2, and mutations of the latter two genes have been reported to cause Fraser syndrome in mice and humans. The phenotypic variability previously reported for different Frem1 mouse mutants suggests that the apparently distinct phenotype of BNAR in humans may represent a previously unrecognized variant of Fraser syndrome.

Topics: Abnormalities, Multiple; Amino Acid Sequence; Animals; Base Sequence; DNA Mutational Analysis; Extracellular Matrix Proteins; Gene Expression Regulation, Developmental; Mice; Molecular Sequence Data; Mutation; Nasal Mucosa; Nose; Syndrome

Median cleft lip is usually divided into true and false when being discussed. Owing to recent developments of diagnostic imaging methods that have improved the accuracy, the presence of an intermediate type of median cleft lip, which cannot simply be divided into true and false, has been suggested. However, the simple method of classification is still clinically valuable. We have previously reported in this Journal a case of median cleft lip with 2 upper labial frenums. In the present study, based on our experience with false median cleft lip, we set forth a hypothesis that 2 upper labial frenums can be found in true median cleft lip, whereas no upper labial frenum is found in false median cleft lip. A review of the results of previous Japanese cases (7 true and 4 false cases) supported our hypothesis. We also reviewed one of our cases of right cleft lip accompanied by holoprosencephaly and discuss the case from the developmental perspective. The shape of the upper labial frenum may be a factor that can be used for clinically classifying intermediate median cleft lip into either true or false in cases that are otherwise difficult to classify.

Topics: Acrocallosal Syndrome; Chromosome Aberrations; Chromosomes, Human, Pair 18; Cleft Lip; Frontal Lobe; Holoprosencephaly; Humans; Infant, Newborn; Labial Frenum; Magnetic Resonance Imaging; Nose; Syndrome; Treatment Outcome

Acrodysostosis is a rare syndrome characterized by peripheral dysostosis, nasal hypoplasia and frequently mental retardation. Only one adult case of acrodysostosis has been reported to have neurologic symptoms. We report one further adult case of acrodysostosis with severe neurologic findings including myelopathy and spastic paraparesis due to diffuse spinal stenosis and recurrent deep vein thrombosis possibly caused by neurologic deficits.. We report a 43-year-old woman who had back and neck pain with weakness in the extremities of several years. 1~year before admission to our hospital, she had been treated with a missed diagnosis of sero (-) spondyloarthropathy but had not benefited. She became unable to walk, thereafter she underwent decompression surgery with a diagnosis of degenerative spinal stenosis. She presented at our outpatient department complaining of lowback pain and difficulty walking. She had marked facial and peripheral appearance of acrodysostosis. Spinal MRI revealed extensive spinal stenosis. A diagnosis was made through the genetic investigation, clinical and radiological findings. Spastic paraparesis were detected. There was widespread neuropathic pain. 15 days after admission, she developed swelling and redness of the left lower extremity and the venous doppler ultrasonography showed left acute and right past DVT. We treated DVT with anticoagulant therapy. Gabapentin and Baclofen were initiated for neuropathic pain and spasticity. A conventional rehabilitation program was performed. She left walking with a walker without pain and spasticity.. We would like to remind physicians to be aware of peripheral malformations as signs of skeletal dysplasias and to consider acrodysostosis in the differential diagnosis. Although it is a rare condition, if diagnosed early, possible complications can be treated and outcomes may be improved.

Topics: Adult; Anticoagulants; Dysostoses; Female; Hand Deformities, Congenital; Humans; Intellectual Disability; Nose; Paraparesis, Spastic; Spinal Stenosis; Syndrome; Venous Thrombosis

Trigeminal trophic syndrome is a rare entity characterized by the presence of ala nasi ulceration, trigeminal anesthesia, and paresthesia. It arises secondary to trigeminal nerve injury. Patients with this diagnosis often undergo repeated skin biopsies to rule out suspected nonmelanoma skin cancer due to the clinical appearance. Recognition of this entity is paramount to avoid unnecessary surgical intervention and to attempt therapy.

Topics: Aged, 80 and over; Female; Humans; Lip; Lip Diseases; Nose; Nose Diseases; Paresthesia; Skin; Skin Ulcer; Syndrome; Trigeminal Nerve Diseases; Trigeminal Nerve Injuries

Maxillonasal dysplasia is characterized by a concave facial profile and a flat nose. The etiology of Binder syndrome is skeletal hypoplasia around the piriform aperture and excavations-fossae prenasales, bilaterally in the nasal floor-which are pathognomonic. There is no real shortage of the soft tissues. In 2 medical centers in Sweden and Mexico, different grafts were used for reconstruction, but the focus was similar, filling out the maxilla anterior to the nasal floor and supporting the nasal framework to normalize tip projection. The basis for this study was to compare the long-term results between bone grafts in Sweden and cartilage grafts in Mexico. Sixteen patients from both groups were available for long-term follow-up. Simplified digital analysis of anthropometric variables were performed in the short-term and long-term follow-ups. The Swedish group had primary at the mean age of 21.3 years, whereas mean follow-up period was 16.8 years later. The Mexican group had primary at the age of 13.6 years, and the follow-up period was 8.4 years. Secondary correction was necessary in 25% of the patients in the bone graft group (Sweden) and in 19% of patients in the cartilage group (Mexico). Bone grafts slightly relapsed in tip projection and remodeled to some extent in the nasolabial angle. Cartilage grafts showed stability in the tip projection quotients and resulted in a postoperative normalization of the nasolabial angle but developed a slight relapse between the short-term and long-term follow-ups. Both techniques were stable in nose tip-length ratio, and a normalization of anthropometric variables was demonstrated in all the long-term follow-ups. Both the bone and cartilage graft techniques at the 2 centers rendered the intended result of an increased and normalized angle of convexity of the face and nasal tip projection. An experience in the properties and behavior of either graft is necessary to get a long-term stable outcome.

Topics: Adolescent; Bone Transplantation; Cartilage; Cephalometry; Female; Humans; Male; Maxilla; Maxillofacial Abnormalities; Mexico; Nasal Septum; Nose; Retrospective Studies; Rhinoplasty; Sweden; Syndrome; Treatment Outcome; Young Adult

Topics: Child; Facial Bones; Humans; Imaging, Three-Dimensional; Lasers; Masks; Maxillofacial Abnormalities; Nose; Syndrome

The simultaneous presentation of bifid nose and bilateral cleft hand defects has not previously been described. Already rare in presentation, the bifid nose continues to challenge reconstructive surgeons as to optimal management. Although cleft defects of the hand may be somewhat more common, the multitude of surgical approaches available to correct these deformities is a testament to their lack of optimal effect. From an etiologic standpoint, it would seem that facial and hand clefting might share little in common. However, our recent experience with managing these coincident deformities in a newborn prompted a re-evaluation of material related to this exceedingly rare event. Here, we present a 4-month-old female infant with a coincident bifid nose and central ray deficiency.

Topics: Female; Hand Deformities, Congenital; Humans; Hypertelorism; Infant; Nasal Cartilages; Nose; Syndrome; Tomography, X-Ray Computed

We report on a young female patient with the clinical features of blepharophimosis-ptosis-epicanthus inversus syndrome (BPES, OMIM 110100) and a balanced chromosome translocation 46, XX, t(2;3)(q33;q23)dn.BPES is a rare autosomal dominant congenital disorder characterized by the eponymous oculo-facial features that are, in female patients, associated either with (type 1 BPES) or without (type 2 BPES) premature ovarian failure. Both types of BPES are caused by heterozygous mutations in the FOXL2 gene, which is located in chromosome band 3q23. Chromosome aberrations such as balanced rearrangements have only rarely been observed in BPES patients but can provide valuable information about regulatory regions of FOXL2. The translocation in this patient broadens our knowledge of pathogenic mechanisms in BPES and highlights the importance of conventional cytogenetic investigations in patients with negative results of FOXL2 mutation screening as a prerequisite for optimal management and genetic counseling.

Topics: Blepharophimosis; Blepharoptosis; Chromosome Breakage; Chromosomes, Human, Pair 2; Chromosomes, Human, Pair 3; DNA Mutational Analysis; Female; Forkhead Box Protein L2; Forkhead Transcription Factors; Humans; In Situ Hybridization, Fluorescence; Infant; Nose; Skin Abnormalities; Syndrome; Translocation, Genetic

Topics: Codon, Nonsense; Diseases in Twins; Ephrin-B1; Exons; Female; Humans; Molecular Sequence Data; Nose; Skull; Syndrome

Topics: Base Sequence; Ephrin-B1; Exons; Frameshift Mutation; Humans; Molecular Sequence Data; Nose; Skull; Syndrome

Floating-Harbor syndrome is a rare disorder which is clinically characterized by short stature, retarded speech development, delayed bone ages, triangular face, bulbous nose and thin lips. We described two cases with Floating-Harbor syndrome and briefly reviewed the relevant literature.

Topics: Abnormalities, Multiple; Child, Preschool; Craniofacial Abnormalities; Diagnosis, Differential; Dwarfism; Face; Facial Bones; Female; Fingers; Hearing Loss; Heart Septal Defects, Ventricular; Humans; Infant; Intellectual Disability; Male; Mouth Abnormalities; Nose; Pulmonary Valve Stenosis; Speech Disorders; Syndrome

Oculoauriculofrontonasal syndrome was the subset of patients with oculo-auriculo-vertebral spectrum and frontonasal malformation. Radiographic evidence of tracheal duplication was documented in a male infant with oculoauriculofrontonasal syndrome. Although previously unreported in oculoauriculofrontonasal syndrome, airway anomalies in our case can be attributed to the oculo-auriculo-vertebral component of the oculoauriculofrontonasal syndrome.

Topics: Abnormalities, Multiple; Eye Abnormalities; Female; Humans; Infant, Newborn; Male; Nose; Respiratory System Abnormalities; Spine; Syndrome

Nasal polyposis is a very common and multifactorial disease. Whereas eosinophil-dominated polyps often are sensitive to anti-inflammatory treatment like corticosteroids, the therapy of polyps without eosinophils is more difficult and disappointing. We report the clinical course of a 29-year-old albino patient suffering from a extreme manifestation of Woakes' syndrome, which is characterized by severe recurrent nasal polyps, often without eosinophils on histological examination and with broadening of the nose. In this case, the recurrent fibrotic polyps without eosinophils were resistant to conventional medical and surgical treatment and required further treatment with radiotherapy with awareness of all possible future sequelae. The pathoetiology and treatment of Woakes' syndrome as well as of albinism were discussed.

Topics: Adult; Albinism; Black People; Ethmoid Sinus; Ethmoid Sinusitis; Humans; Hypertelorism; Male; Nasal Polyps; Nose; Nose Deformities, Acquired; Recurrence; Reoperation; Syndrome; Tomography, X-Ray Computed

A group of syndromes, consisting of Malpuech syndrome, Michels syndrome, Carnevale syndrome, OSA syndrome, and Mingarelli syndrome share the combination of symptoms of highly arched eyebrows, ptosis, and hypertelorism, and vary in other symptoms such as asymmetry of the skull, eyelid, and anterior chamber anomalies, clefting of lip and palate, umbilical anomalies, and growth and cognitive development. It has been suggested that they are in fact part of the same entity. Here, we describe a brother and sister with the same constellation of symptoms, and compare these with the various entities. We conclude that the present patients resemble most patients with Carnevale and Mingarelli syndrome, and the case reported by Guion-Almeida, and that these patients form together most probably the same entity. We suggest the name Carnevale syndrome as this author described this combination of symptoms for the first time. Malpuech and Michels syndromes are probably separate entities, although they may still be allelic. Pattern of inheritance of Carnevale syndrome is most likely autosomal recessive.

Topics: Abnormalities, Multiple; Blepharoptosis; Bone Diseases; Child, Preschool; Cleft Lip; Cleft Palate; Craniofacial Abnormalities; Craniosynostoses; Eyelids; Face; Female; Genes, Recessive; Humans; Hypertelorism; Male; Nose; Radiography; Skull; Syndrome; Torticollis; Urogenital Abnormalities

The first step in the olfactory perception is the activation by odorants of sensory neurones in the olfactory epithelium. In humans, this sensory epithelium is located at 2 narrow passages, the olfactory clefts, at the upper part of the nasal cavities. Little is known about the physiology of these clefts. We examined, in 34 patients, the impact of obstructed clefts upon detection and postlearning identification of 5 odorants. The location and extension of the obstructions were assessed using endoscopy, CT scans, and MRI. The inflammatory obstruction was usually bilateral, extending anteroposteriorly, and confined to the clefts, with no sign of obstruction or any inflammatory disease in the rest of the nasal cavities and sinuses. When tested with 5 odorants, these patients showed greatly impaired olfaction compared with a group of 73 normosmic subjects. The majority of these 34 patients had sensory deficits equivalent to that found in another group of 41 congenital anosmic patients, where inspection with MRI indicated the lack of olfactory bulbs. This study demonstrates that the olfactory clefts, in human, function as an entity that is different from other regions of the nasal cavity and is the target for local inflammatory events that are apparently not responding to corticoid and antibiotic treatments.

Topics: Adult; Female; Humans; Magnetic Resonance Imaging; Male; Middle Aged; Nose; Nose Diseases; Olfaction Disorders; Reference Values; Rhinitis; Smell; Syndrome; Tomography, X-Ray Computed

In contrast to the common clefts of the lip, alveolus and palate, the atypical clefts of the face may come in myriad patterns of clinical expression and are often not easy to define.. In this report, a case of median craniofacial dysraphia is described.. At presentation, the 3-month-old male patient had a bilateral complete cleft of the lip, alveolus and palate. The nose was wide and a horn was present on the nasal dorsum. 3-D CT AND MRI REVEALED: Duplication of the metopic suture ending at the wide anterior fontanel; orbital hypertelorism; midline cranial cleft ending just superior to the nasal dorsum; frontoethmoidal encephalocoele and holoprosencephaly. The presence of two metopic sutures was confirmed during surgery.. The presented case carries the characteristics of the median cleft face syndrome. However, it differs from similar cases in two respects. First, the patient had two metopic sutures, one on either side of the cranial extension of the median cleft. Second, the patient had a bilateral cleft lip in contrast to the expected median cleft lip deformity.

Topics: Cerebellum; Cleft Lip; Cleft Palate; Cranial Sutures; Craniofacial Abnormalities; Encephalocele; Holoprosencephaly; Humans; Hypertelorism; Infant; Male; Muscle Spasticity; Nose; Radiography; Syndrome

Antley-Bixler syndrome (ABS) is characterized by craniofacial dysmorphism and radiohumeral synostosis with other associated anomalies. Prior studies have commonly described the entirety of the syndrome or the genetic abnormalities underlying the syndrome, however, no study has specifically addressed the otologic findings of ABS. We present a case of ABS, specifically focusing on the otologic ramifications of the disease, and provide recommendations for approaching the otologic management of these complex patients.

Topics: Abnormalities, Multiple; Child; Craniofacial Abnormalities; Ear; Female; Fractures, Bone; Humans; Humerus; Nose; Radius; Skull; Syndrome; Synostosis; Tomography, X-Ray Computed

Keipert syndrome is a rare condition comprising sensorineural deafness associated with facial and digital abnormalities. To date, Keipert syndrome has been reported in six male patients including two sib pairs; however the genetic basis of Keipert syndrome is yet to be elucidated. We report on the diagnosis of Keipert syndrome in the nephew of the brothers in the first report of Keipert syndrome, with a pedigree consistent with X-linked recessive inheritance. Linkage analysis using microsatellite markers along the X-chromosome suggests that the gene for Keipert syndrome is located in the region Xq22.2-Xq28. We postulate the Keipert syndrome is caused by a novel gene at Xq22.2-Xq28.

Topics: Abnormalities, Multiple; Adult; Chromosome Mapping; Chromosomes, Human, X; Deafness; Female; Fingers; Genetic Diseases, X-Linked; Genetic Linkage; Humans; Infant; Male; Nose; Pedigree; Syndrome; Toes

Cotard syndrome is a rare condition, which its main symptom is nihilistic delusion. Self-mutilation of the nose is also a rare condition, which has not been seen in schizophrenic patients with Cotard syndrome. A single case is presented here. A 32-year-old woman who was diagnosed as having schizophrenia and believed that she was dead, cut the tip of her nose. She had no guilt feeling and described her act as a cosmetic surgery. We try to explain how various symptoms that seem to be very far from each other could exist side by side. Misinterpretation of her face is suggested to be the starting point in her complex symptoms.

Topics: Delusions; Female; Humans; Nose; Schizophrenia; Self Mutilation; Syndrome

Frontonasal dysplasia is etiologically heterogeneous and various subsets are known. Pai syndrome is one subset, which is characterized by mild hypertelorism, midline cleft lip, nasal and facial polyps, pericallosal lipoma, ocular anomalies, and normal neuropsychological development. Here, we report seven South American patients and review earlier reported cases. The phenotype is clinically variable and five reported patients were severely affected. The cause of Pai syndrome is unknown to date. Several literature findings have been noted: nondiagnostic and discordant minor signs in a parent of two separate families with an affected child; discordant phenotype in monozygotic twins in one instance; and a de novo reciprocal translocation, 46,X,t(X;16)(q28;q11.2) in one instance.

Topics: Abnormalities, Multiple; Brain; Child; Child, Preschool; Cleft Lip; Craniofacial Abnormalities; Facial Bones; Facies; Female; Humans; Hypertelorism; Infant; Magnetic Resonance Imaging; Male; Nose; Syndrome; Translocation, Genetic

Here, we report on a newly recognized syndrome in a Brazilian family with three affected women, who had a Marfanoid habitus; long face; hypotelorism; long, thin nose; long, thin hands and feet; and language and learning disabilities. The disorder is compatible with autosomal dominant inheritance.

Topics: Abnormalities, Multiple; Adolescent; Adult; Craniofacial Abnormalities; Facies; Family Health; Female; Foot; Genes, Dominant; Hand; Humans; Intellectual Disability; Language; Learning Disabilities; Marfan Syndrome; Nose; Syndrome

Topics: Child; Chromosome Deletion; Chromosome Disorders; Chromosomes, Human, Pair 9; Female; Follow-Up Studies; Humans; In Situ Hybridization, Fluorescence; Karyotyping; Nose; Phenotype; Syndrome

Raine syndrome is an autosomal recessive condition with generalized osteosclerosis, characteristic facial dysmorphism and brain abnormalities including intracerebral calcifications. We report on a case with Raine syndrome born to nonconsanguineous couple and report the prenatal sonogram/MRI, the fetopathology, and neuropathology findings.

Topics: Autopsy; Bone and Bones; Bone Diseases, Developmental; Brain; Facial Bones; Humans; Magnetic Resonance Imaging; Male; Nose; Osteosclerosis; Prenatal Diagnosis; Stillbirth; Syndrome

Bosma et al. [1981] delineated a syndrome affecting two unrelated males with severe hypoplasia of the nose and eyes, palatal abnormalities, deficient taste and smell, inguinal hernias, hypogonadotropic hypogonadism with cryptorchidism, and normal intelligence. Other patients with this syndrome have been reported as cases of arhinia with associated defects. During embryonic development, the nasal placodes form 28 days after conception shortly after the optic vesicles makes contact with the overlying surface ectoderm at 26-27 days, and both layers invaginate to form the eyes between 34 and 44 days. Mice with homozygous mutations of Pax6, manifest underdevelopment of ocular and nasal structures, and a network of developmentally regulated genes function downstream of Pax6 to form nasal, ocular, and pituitary structures. These genes represent candidate genes for this disorder, and familial recurrence of Bosma syndrome has been reported to occur. This report describes two sporadic unrelated cases of this rare syndrome and briefly reviews the findings in previously reported cases.

Topics: Abnormalities, Multiple; Adult; Child, Preschool; Eye Proteins; Facial Bones; Genetic Predisposition to Disease; Homeobox Protein SIX3; Homeodomain Proteins; Humans; In Situ Hybridization, Fluorescence; Male; Microphthalmos; Nerve Tissue Proteins; Nose; Paired Box Transcription Factors; PAX6 Transcription Factor; Repressor Proteins; Syndrome

Gradual midfacial advancement, applying the principle of distraction osteogenesis, reduces the restriction of the soft tissues and results in bony consolidation without need for grafting. The midface can be distracted by either pushing it forward, using semiburied devices, or pulling it forward by a rigid external device. For each method there are inherent technical problems, such as controlling the vector of movement, symmetry of advancement, and differential movement of the upper/lower face. We have used a combination of the 2 methods, called "push-pull," in an effort to control the distraction process. The purpose of this paper is to describe our push-pull distraction technique and summarize our early experience.. Ten patients (5 males and 5 females) with a mean age of 11 years 2 months underwent midfacial advancement using push-pull distraction. Two orthodontists, blinded for landmark identification, traced preoperative and postoperative cephalograms and determined linear and angular measurements of midfacial position. A Student t test was used to assess differences between the cephalometric measures on the 2 radiographs. Interexaminer reliability was calculated by an intraclass correlation coefficient.. Postdistraction cephalograms were taken a mean of 10 months (range, 3 to 20 months) after removal of the devices. Patients exhibited improvement at all levels of the midface after distraction. There was a statistically significant sagittal advancement from the infraorbital rim to dentoalveolus. The central midface was sufficiently advanced as shown by an improved convexity, nasolabial angle, and upper labial protrusion. There were no significant differences between examiners for any of the measurements in this study.. Push-pull distraction permits 1) equal movement at both the upper and lower facial levels, 2) advancement of the central midface, and 3) symmetric movement of the zygomaticomaxillary complexes. This method also provides a backup, in case one device malfunctions. In combination, the advantages of each device are additive; whereas the weaknesses are not. The push-pull technique is a practical method for midfacial distraction until a better single device is fabricated.

Topics: Acrocephalosyndactylia; Adolescent; Airway Obstruction; Alveolar Process; Cephalometry; Child; Child, Preschool; Craniofacial Dysostosis; Female; Follow-Up Studies; Humans; Lip; Male; Maxilla; Maxillofacial Abnormalities; Nose; Orbit; Osteogenesis, Distraction; Osteotomy, Le Fort; Single-Blind Method; Syndrome; Zygoma

Trichorhinophalangeal syndrome (TRPS) type I is characterized by slowly progressing systemic osseous dysplasia, exhibiting craniofacial and other skeletal deformities. However, there have been few reports describing this syndrome after undergoing orthognathic surgery. In this report, we present a patient with TRPS I who successfully underwent orthognathic surgery. In addition, we examined the skeletal stability of the patient for 2 years after the surgery.

Topics: Abnormalities, Multiple; Adult; Alopecia; Cephalometry; DNA-Binding Proteins; Female; Finger Phalanges; Hand Deformities, Congenital; Humans; Jaw Abnormalities; Malocclusion, Angle Class III; Neoplasm Proteins; Nose; Oral Surgical Procedures; Osteochondrodysplasias; Osteotomy, Le Fort; Repressor Proteins; Syndrome; Transcription Factors

Craniofrontonasal syndrome (CFNS) is an X-linked disorder whose main clinical manifestations include coronal craniosynostosis and frontonasal dysplasia. Very recently, CFNS was shown to be caused by mutations in EFNB1 encoding ephrin-B1, and 20 mutations have been described. We report a Thai woman with CFNS, in whom a novel mutation was discovered: c.685_686insG, in exon 5 of EFNB1. It is the first insertion and the most 3' point mutation in EFNB1 reported to date. The mutation is expected to result in a truncated ephrin-B1 of 230 amino acids, composed of a nearly complete extracellular part of ephrin-B1 with no transmembrane and cytoplasmic domains. This truncated protein might become a soluble form of the ligand, which previously was shown to be able to bind to receptors, but fail to cluster and to activate them--in other words, acting as a dominant negative protein. Nonetheless, further studies to detect the protein are needed to substantiate the hypothesis.

Topics: Adult; Carrier Proteins; Craniosynostoses; Ephrin-B1; Female; Genetic Diseases, X-Linked; Humans; Nose; Point Mutation; Syndrome

We report on the clinical and molecular abnormalities in a 7-month-old girl and her mother with an ectodermal dysplasia disorder that most closely resembles Rapp-Hodgkin syndrome (RHS). At birth, the child had bilateral cleft palate, a narrow pinched nose, small chin, and hypoplastic nipples, and suffered from respiratory distress, feeding difficulties, and poor weight gain, although developmental progress was normal. Her mother had a cleft palate, sparse hair, high forehead, dental anomalies, a narrow nose, dysplastic nails, and reduced sweating. Sequencing of the p63 gene in genomic DNA from both individuals revealed a heterozygous frameshift mutation, 1721delC, in exon 14. This mutation has not been described previously and is the seventh report of a pathogenic p63 gene mutation in RHS. The frameshift results in changes to the tail of p63 with the addition of 90 missense amino acids downstream and a delayed termination codon that extends the protein by 21 amino acids. This mutation is predicted to disrupt the normal repressive function of the transactivation inhibitory domain leading to gain-of-function for at least two isoforms of the p63 transcription factor. The expanding p63 mutation database demonstrates that there is considerable overlap between the molecular pathology of RHS and Hay-Wells syndrome, with identical mutations in some cases, and that these two disorders may in fact be synonymous.

Topics: Adult; Biomarkers; Chin; Cleft Palate; Ectodermal Dysplasia; Female; Frameshift Mutation; Humans; Infant; Membrane Proteins; Nails, Malformed; Nose; Syndrome

Treatment of trigeminal trophic syndrome is challenging and often unsatisfactory, particularly in patients with cognitive impairment. We report the novel use of a thermoplastic dressing in two patients with trigeminal trophic syndrome. Use of the dressing resulted in successful healing of ulceration in both patients, which has been maintained in the short term, representing a simple and economical therapeutic option in the management of this difficult condition.

Topics: Aged, 80 and over; Bandages; Female; Humans; Hypesthesia; Male; Middle Aged; Neurosurgical Procedures; Nose; Postoperative Complications; Skin Ulcer; Syndrome; Trigeminal Nerve Injuries; Trigeminal Neuralgia; Wound Healing

This case report describes a child with the features of Kabuki syndrome, but with the additional feature of scalp cutis aplasia, which has not been previously described in this syndrome.

Topics: Abnormalities, Multiple; Ear; Ectodermal Dysplasia; Eyebrows; Eyelids; Face; Foot Deformities, Congenital; Hand Deformities, Congenital; Humans; Infant; Male; Nose; Syndrome

Twenty-four patients were evaluated to better characterize neurological and neuroradiological aspects of midline facial defects with ocular hypertelorism.. After a clinical genetics evaluation, the individuals were divided into two groups: 12 isolated cases (group 1) and 12 associated with multiple congenital anomalies (group 2). The investigation protocol included medical and family history, as well as dysmorphological, neurological, and neuroradiological evaluations by magnetic resonance imaging or computed tomography scan.. Because there was no significant difference concerning the neurological aspects of groups 1 and 2, they were analyzed together. Mild hypotonia (24 of 24), abnormalities in cranial shape (24 of 24), cranial nerves (19 of 24), motor coordination (18 of 24), dynamic equilibrium (14 of 24), and language problems (8 of 24) were noted. Measurements of the posterior fossa showed hypoplastic cerebellar vermis (8 of 17), the cerebellum at lower normality limits (5 of 17), and signs of cerebellar hypoplasia (3 of 7).. This study clearly demonstrates the presence of structural and functional neurological abnormalities related to midline facial defects with ocular hypertelorism, as well as involvement of the cerebellum. It provides a basis for future investigation of midline facial defects with ocular hypertelorism and should be considered during planning of rehabilitation treatment.

Topics: Adolescent; Adult; Cerebellar Diseases; Cerebellum; Child; Child, Preschool; Craniofacial Abnormalities; Female; Frontal Bone; Humans; Hypertelorism; Magnetic Resonance Imaging; Male; Movement Disorders; Neurologic Examination; Nose; Syndrome; Tomography, X-Ray Computed

The flat dorsum and short septum of the nose, enlarged nasal angle, small naso-labial angle, maxillary micrognathism, and augmented upper lip, what makes the concave midface profile are the symptoms of Binder syndrome (maxillonasal displasia). The treatment consists of nasal and maxillary correction followed by orthodontic rehabilitation.. Five cases affected with Binder syndrome (age: 5-20 years old) were observed. Two patients were surgically treated in age 14 and 20-year-old. Nose correction was performed--elongation of skin nasal septum and bone graft to dorsum. Three patients need the orthodontic treatment of occlusal class III. There was no indication to corrective osteotomy of maxilla.. Five year long-term result after surgical nose correction is excellent.. The treatment schedule in Binder syndrome depends on the progress of the symptoms in the face occlusion. Surgical treatment can be limited only to reconstruction of the nasal dorsum and apex or additionally maxillary advancement. Grafting to the osteo-chondral scafold of the nose can be carry out from 14-year-old, and osteotomy of the nose or maxilla should be planned after 18-year-old. Every patient affected with maxillonasal displasia requires consultation and orthodontic treatment.

Topics: Adolescent; Adult; Child; Female; Humans; Male; Maxilla; Maxillofacial Abnormalities; Nasal Bone; Nasal Cavity; Nasal Septum; Nose; Rhinoplasty; Syndrome; Treatment Outcome

Gingival fibromatosis is an inherited disease of the gingival tissue causing proliferative fibrous lesions occurring alone or as one feature of a more widespread syndrome.. A 26-year-old girl consulted the oral surgery department for a functional problem due to the presence of two tumor masses located in the palate. The histological diagnosis was gingival fibromatosis. The presence of skeletal disorders in this patient with gingival fibromatosis suggested the diagnosis of Zimmermann Laband syndrome.. Gingival fibromatosis is a rare condition characterized by a gingival hypertrophy. It is transmitted by autosomal dominant or recessive inheritance. The oral examination and histology provides the diagnosis. The treatment consistes of surgical removal of the hyperplasic fibrous tissue. Prognosis is dominated by the risk of recurrence which is frequent. Generally, gingival fibromatosis is isolated. In rare cases, it can be associated with symptoms sugges-ting a syndromic diagnosis such as Zimmermann Laband syndrome. In addition to gingival hypertrophy, skeletal anomalies can involve the fingers, the toenails, the thorax or the vertebrae. Splenomegaly and joint hyperextensibility can also be found.

Topics: Adult; Female; Fibromatosis, Gingival; Heart Defects, Congenital; Hemostatic Techniques; Humans; Lip; Musculoskeletal Abnormalities; Nails, Malformed; Nose; Syndrome

Bowen-Conradi syndrome (BCS) is a lethal autosomal recessive disorder with an estimated incidence of 1 in 355 live births in the Hutterite population. A few cases have been reported in other populations. Here, we report the results of a genome-wide scan and fine mapping of the BCS locus in Hutterite families. By linkage and haplotype analysis the BCS locus was mapped to a 3.5 cM segment (1.9 Mbp) in chromosome region 12p13.3 bounded by F8VWF and D12S397. When genealogical relationships among the families were taken into account in the linkage analysis, the evidence for linkage was stronger and the number of potentially linked regions was reduced to one. Under the assumption that all the Hutterite patients were identical by descent for a disease-causing mutation, haplotype analysis was used to infer likely historical recombinants and thereby narrow the candidate region to a chromosomal segment shared in common by all the affected children. This study also demonstrates that BCS and cerebro-oculo-facial-skeletal syndrome (COFS) are genetically distinct.

Topics: Abnormalities, Multiple; Chromosome Mapping; Chromosomes, Human, Pair 12; Consanguinity; Ethnicity; Female; Fetal Growth Retardation; Humans; Lod Score; Male; Microcephaly; Micrognathism; Microsatellite Repeats; Nose; Pedigree; Syndrome

Oculoauriculofrontonasal syndrome is a rare developmental field defect that represents an abnormal morphogenesis of the frontonasal eminence. It consists of features of both oculoauriculovertebral spectrum and frontonasal malformation. A few cases in the literature have described this syndrome, but to the best of our knowledge the present case is the first early prenatal diagnosis of this severe condition using three-dimensional ultrasonography.

Topics: Adult; Ear, External; Early Diagnosis; Eyelids; Female; Humans; Imaging, Three-Dimensional; Jaw Abnormalities; Nose; Optic Nerve; Pregnancy; Pregnancy Trimester, Third; Prenatal Diagnosis; Syndrome; Ultrasonography

Oral allergy syndrome (OAS) is often associated with pollen-induced rhinitis, and there are preferential associations between causative substances. If OAS and rhinitis are both immunoglobulin (Ig)E-mediated and there are cross-reacting proteins, it is expected that similar reactions can be elicited in the nose and mouth. In order to test this hypothesis we performed a series of 'cross-challenges' with foods and pollens in both the nose and the mouth.. Nine patients with ascertained OAS due to vegetables and rhinitis due to pollens were studied. On the first day a nasal challenge with pollen extracts and an oral challenge with fresh food was carried out. After a week, washout nasal challenge with food and an oral challenge with pollens were performed. Immediate symptoms, mucosal tryptase and soluble eosinophil cationic protein (ECP) were assessed after each challenge.. The administration of pollen into the nose and food into the mouth elicited symptoms as expected, but the cross-challenge had no clinical effect. In parallel, tryptase and ECP increased after nasal challenge with pollens, whereas foods did not elicit a measurable response.. The cross-reactivity between foods and pollens, when evaluated at the shock organ, was not clinically evident. This data can be explained with a low concentration of cross-reagent epitopes in pollen extracts and food homogenized because of degradation. The different behaviour upon challenge suggests that different immunological mechanisms may act in the nose and mouth.

Topics: Adolescent; Adult; Child; Cross Reactions; Eosinophil Cationic Protein; Female; Food Hypersensitivity; Humans; Hypersensitivity; Male; Mouth; Nose; Pollen; Rhinitis; Serine Endopeptidases; Syndrome; Tryptases; Vegetables

Topics: Abnormalities, Multiple; Blepharophimosis; Cleft Palate; Fatal Outcome; Foot Deformities, Congenital; Genes, Recessive; Hand Deformities, Congenital; Humans; Infant, Newborn; Limb Deformities, Congenital; Male; Mandibulofacial Dysostosis; Nose; Syndrome

The main features of median cleft facial syndrome are hypertelorism, cranium bifidum occultum, widow's peak, and midine clefting of the nose, upper lip and palate. Since this pathology was first described in 1967, many cases have been reported in the literature, but none of these reports has addressed oral anomalies in depth.. The authors present the case of a female patient aged 4 years and 7 months who was diagnosed with median cleft facial syndrome. In this case, the patient had an abnormal number of teeth, owing to fusion or agenesis of teeth, supernumerary teeth and ectopic eruption of some teeth. These oral anomalies had not been described before in the literature as being associated with this syndrome.. Median cleft facial syndrome is a rare pathology; however, dentists should know its possible alterations at an oral level, because children with this syndrome need dental treatment to achieve good esthetics and correct occlusion.

Topics: Anodontia; Child, Preschool; Craniofacial Abnormalities; Female; Fused Teeth; Humans; Hypertelorism; Nose; Syndrome; Tooth Eruption, Ectopic; Tooth, Supernumerary

We report on a father and a son with nasal and limb defects characteristic of Laurin-Sandrow syndrome (LSS) excluding for the first time X-linked inheritance in this rare condition. Based on a search for genes expressed late during nose formation and early in limb formation we identified retinoic acid receptor B (RARB) and retinoic acid receptor G (RARG) as possible candidate genes and sequenced bidirectionally including all exons and intron-exon bounders. We identified a single nucleotide substitution in intron 2 of RARB, which is conserved in human, chimp, dog, mouse, rat, and chicken. However, it was located 83 bp from exon 2, suggesting it is a rare polymorphism which does not account for the phenotype. No other mutations were found. This suggests that another yet unknown gene is responsible for the condition.

Topics: Abnormalities, Multiple; Adult; Child; Foot Deformities, Congenital; Genetic Predisposition to Disease; Hand Deformities, Congenital; Humans; Inheritance Patterns; Male; Nose; Receptors, Retinoic Acid; Sex Factors; Syndrome

The OMENS syndrome involves craniofacial maldevelopment of the orbit, ear cranial nerve and soft tissue, while OMENS-plus syndrome also includes extracraniofacial anomalies. These may be skeletal, cardiovascular, gastrointestinal, pulmonary, renal and central nervous system malformations. A fourteen-year-old girl presented with hemifacial microsomia, digital abnormalities and pancreatitis. She was diagnosed as O1M2E0N2S1--plus syndrome. Investigations revealed a type Ic choledochal cyst. The latter has not been reported as a gastrointestinal association earlier in literature to the best of the authors' knowledge.

Topics: Abnormalities, Multiple; Adolescent; Craniofacial Abnormalities; Facial Asymmetry; Female; Fingers; Humans; Mouth Abnormalities; Nose; Syndrome; Toes

Johanson-Blizzard syndrome (OMIM 243800) is an autosomal recessive disorder that includes congenital exocrine pancreatic insufficiency, multiple malformations such as nasal wing aplasia, and frequent mental retardation. We mapped the disease-associated locus to chromosome 15q14-21.1 and identified mutations, mostly truncating ones, in the gene UBR1 in 12 unrelated families with Johanson-Blizzard syndrome. UBR1 encodes one of at least four functionally overlapping E3 ubiquitin ligases of the N-end rule pathway, a conserved proteolytic system whose substrates include proteins with destabilizing N-terminal residues. Pancreas of individuals with Johanson-Blizzard syndrome did not express UBR1 and had intrauterine-onset destructive pancreatitis. In addition, we found that Ubr1(-/-) mice, whose previously reported phenotypes include reduced weight and behavioral abnormalities, had an exocrine pancreatic insufficiency, with impaired stimulus-secretion coupling and increased susceptibility to pancreatic injury. Our findings indicate that deficiency of UBR1 perturbs the pancreas' acinar cells and other organs, presumably owing to metabolic stabilization of specific substrates of the N-end rule pathway.

Topics: Abnormalities, Multiple; Amino Acid Sequence; Animals; Chromosome Mapping; Chromosomes, Human, Pair 15; Humans; Intellectual Disability; Maxillofacial Abnormalities; Mice; Molecular Sequence Data; Mutation; Nose; Pancreas; Pancreatic Diseases; Syndrome; Ubiquitin-Protein Ligases

Sebaceous carcinoma of the eyelid is an uncommon tumour with unusual modes of presentation. It can remain occult at the primary site, without producing any mass, masquerading as chronic blepharoconjunctivitis, while setting up metastases in the regional lymph nodes especially in the pre-auricular group. We report here a case that not only masqueraded as chronic blepharoconjunctivitis with nodal metastases from an 'unknown primary' in the neck, but whose tumour spread in a pagetoid manner along the nasolacrimal duct producing a nasal tumour that was believed to be the 'unknown primary'. This case emphasizes the need for ophthalmologists, ENT surgeons and pathologists to keep sebaceous carcinoma in mind while evaluating patients with chronic blepharoconjunctivitis and cervical node metastases from 'unknown primary'. Histological clues for picking up a sebaceous carcinoma at a metastatic site include a tumour with comedo or ductal growth pattern and intracytoplasmic lipid.

Topics: Adenocarcinoma, Sebaceous; Aged; Blepharitis; Conjunctivitis; Diagnosis, Differential; Eyelid Neoplasms; Humans; Lymphatic Metastasis; Male; Neoplasm Invasiveness; Neoplasms, Unknown Primary; Nose; Syndrome

Craniofrontonasal syndrome (CFNS) is an X-linked developmental disorder that shows paradoxically greater severity in heterozygous females than in hemizygous males. Females have frontonasal dysplasia and coronal craniosynostosis (fusion of the coronal sutures); in males, hypertelorism is the only typical manifestation. Here, we show that the classical female CFNS phenotype is caused by heterozygous loss-of-function mutations in EFNB1, which encodes a member of the ephrin family of transmembrane ligands for Eph receptor tyrosine kinases. In mice, the orthologous Efnb1 gene is expressed in the frontonasal neural crest and demarcates the position of the future coronal suture. Although EFNB1 is X-inactivated, we did not observe markedly skewed X-inactivation in either blood or cranial periosteum from females with CFNS, indicating that lack of ephrin-B1 does not compromise cell viability in these tissues. We propose that in heterozygous females, patchwork loss of ephrin-B1 disturbs tissue boundary formation at the developing coronal suture, whereas in males deficient in ephrin-B1, an alternative mechanism maintains the normal boundary. This is the only known mutation in the ephrin/Eph receptor signaling system in humans and provides clues to the biogenesis of craniosynostosis.

Topics: Agenesis of Corpus Callosum; Amino Acid Sequence; Animals; Base Sequence; Chromosomes, Human, X; Cleft Lip; Cleft Palate; Cranial Sutures; Craniofacial Abnormalities; DNA; DNA Mutational Analysis; Dosage Compensation, Genetic; Ephrin-B1; Female; Genetic Linkage; Humans; Hypertelorism; Male; Mice; Molecular Sequence Data; Mutation; Nose; Pedigree; Sequence Homology, Amino Acid; Syndrome; Thumb

We report on two patients with a unique constellation of anomalies resembling the Nager acrofacial dysostosis syndrome. Clinical manifestations which differentiate their condition from Nager syndrome include: microcephaly, cleft lip and palate, a peculiar beaked nose, blepharophimosis, microtia, symmetrical involvement of the thumbs, and great toes and developmental delay. We postulate that the inheritance is autosomal recessive on the basis of similarly affected male and female sibs.

Topics: Abnormalities, Multiple; Adolescent; Blepharophimosis; Cleft Lip; Cleft Palate; Diagnosis, Differential; Female; Genes, Recessive; Humans; Male; Mandibulofacial Dysostosis; Microcephaly; Nose; Syndrome

We report on five unrelated Brazilian patients with heminasal aplasia associated with diverses anomalies, including lateral proboscis, and anomalies of the eye and first branchial arch. We suggest that these patients represent different conditions within the spectrum of the heminasal aplasia malformation. Clinical, genetic, and differential diagnosis are discussed.

Topics: Abnormalities, Multiple; Anophthalmos; Central Nervous System; Facial Bones; Female; Humans; Infant, Newborn; Magnetic Resonance Imaging; Male; Nose; Phenotype; Syndrome; Tomography, X-Ray Computed

Johanson-Blizzard syndrome is a rare autosomal recessive disorder characterized by aplasia of the alae nasi, aplasia cutis, dental anomalies, postnatal growth retardation and pancreatic exocrine aplasia. Some endocrinological dysfunctions--growth hormone (GH) deficiency, hypothyroidism, and diabetes mellitus--are known to complicate this syndrome. We report here a Japanese infant with Johanson-Blizzard syndrome presenting with failure to thrive. Endocrinological examination by insulin-induced hypoglycemia showed not only the presence of GH deficiency, but also the loss of the glucagon secretion response to hypoglycemia. This complication suggests abnormal input of autonomic nerves to the islets of pancreas in Johanson-Blizzard syndrome.

Topics: Abnormalities, Multiple; Consanguinity; Exocrine Pancreatic Insufficiency; Failure to Thrive; Glucagon; Growth Disorders; Growth Hormone; Humans; Hypoglycemia; Infant; Insulin; Male; Nose; Pancreas; Scalp; Stimulation, Chemical; Syndrome

We report on a case of Fryns syndrome with microcephaly, multiple facial anomalies, hypoplasia of distal phalanges, diaphragmatic defect with a thin, translucent diaphragm, microphthalmia (right), anophthalmia (left), and multiple midline developmental defects including gastroschisis, central nervous system defects including left arrhinencephaly and cerebellar hypoplasia, midline cleft of the upper lip, alveolar ridge and maxillary bone, and cleft nose with bilateral choanal atresia. These defects add to our knowledge of the phenotype of Fryns syndrome.

Topics: Abnormalities, Multiple; Central Nervous System; Diagnosis, Differential; Diaphragm; Face; Fatal Outcome; Fingers; Humans; Infant, Newborn; Male; Microcephaly; Musculoskeletal Abnormalities; Nose; Syndrome

The Johanson-Blizzard Syndrome (JBS) is an autosomal recessive disorder with a characteristic phenotype, including dwarfism, a beaked nose with aplastic alae nasi, a high forehead, mid-line ectodermal scalp defects with sparse hair and absent eyelashes/eyebrows, prominent scalp veins, low set ears, a large anterior fontanelle, micrognathia, thin lips, absent permanent dentition and microcephaly. In addition to the characteristic facial features, associated conditions include congenital heart disease, exocrine/endocrine pancreatic dysfunction, hypothyroidism, hypopituitarism, mental retardation, sensorineural hearing loss and vesico-ureteral reflux. A case is presented and the potential anaesthetic implications of this syndrome are discussed.

Topics: Abnormalities, Multiple; Anesthesia, Inhalation; Anesthetics, Inhalation; Child, Preschool; Dwarfism; Female; Genes, Recessive; Humans; Methyl Ethers; Nose; Sevoflurane; Syndrome

We report a patient with bilateral microphthalmia with cyst, limb anomalies, and multiple facial malformations. This patient has clinical features similar to Waardenburg ophthalmo-acromelic syndrome, cerebro-oculo-nasal syndrome, and craniotelencephalic dysplasia. Although all of these syndromes are characterized by microphthalmia, the presently reported patient does not have the complete pattern of any of these syndromes, It is possible that he has a previously undescribed syndrome, most closely related to the cerebro-oculo-nasal syndrome with malformations outside the craniofacial region. More case reports are needed to further delineate this possibly new syndrome.

Topics: Abnormalities, Multiple; Brain; Child, Preschool; Craniofacial Dysostosis; Cysts; Eye Abnormalities; Humans; Limb Deformities, Congenital; Male; Microphthalmos; Nose; Syndrome; Telencephalon; Waardenburg Syndrome

We report on two unrelated Brazilian boys who have craniofacial and digital anomalies resembling those reported with Teebi hypertelorism syndrome. Additional features such as cleft lip and palate, large uvula, atypical chin and abnormal scapulae were observed.

Topics: Abnormalities, Multiple; Adolescent; Chin; Craniofacial Abnormalities; Humans; Hypertelorism; Male; Nose; Scapula; Syndrome

A 17-year-old previously unreported patient with Pai syndrome is described. The boy had median cleft of upper lip, a polypoid skin mass over the columella, a minimal cleft of the upper central incisors, frontal alopecia of the anterior hairline, and bifid nose. Magnetic resonance imaging showed pericallosal lipoma. No mental retardation was present, and a chromosomal study showed normal male 46, XY karyotype.

Topics: Adolescent; Alopecia; Brain Neoplasms; Cleft Lip; Corpus Callosum; Humans; Lipoma; Magnetic Resonance Imaging; Male; Nasal Polyps; Nose; Syndrome

We present a male infant 2.5-months old with asymmetric skull, anophthalmia, apparent hypertelorism, abnormal nares, unilateral cleft lip and palate, and structural abnormalities of the central nervous system. These findings are similar to cerebro-oculo-nasal syndrome except for the appearance of nose. This case is either a clinical variability in cerebro-oculo-nasal syndrome or a new entity.

Topics: Abnormalities, Multiple; Anophthalmos; Brain; Cleft Lip; Cleft Palate; Eye Abnormalities; Humans; Hypertelorism; Infant; Male; Nose; Syndrome; Tomography, X-Ray Computed

Topics: Abnormalities, Multiple; Coloboma; Female; Fingers; Foot Deformities, Congenital; Genes, Dominant; Humans; Limb Deformities, Congenital; Macula Lutea; Male; Nails, Malformed; Nose; Pedigree; Receptor Tyrosine Kinase-like Orphan Receptors; Receptors, Cell Surface; Syndrome; Tooth Abnormalities; Wales

Zimmermann-Laband syndrome is a rare autosomal dominant disorder that is characterized by gingival fibromatosis, ear, nose, bone, and nail defects, and hepatosplenomegaly.. This case report describes the clinical presentation and periodontal findings in a 13-year-old female patient with previously undiagnosed Zimmermann-Laband syndrome.. Clinical and radiographic findings and genetic counseling confirmed the diagnosis of Zimmermann-Laband syndrome. The most striking oral findings were the presence of gingival enlargement involving both the maxillary and mandibular arches, anterior open bite, non-erupted teeth, and two supernumerary teeth. Periodontal treatment consisted of gingivectomy in four quadrants. Histopathologic evaluation of excised tissue supported the diagnosis of gingival fibromatosis. The patient was referred for appropriate orthodontic treatment and genetic counseling, and has been closely followed for the earliest signs of hepatosplenomegaly.. Dental practitioners should be alert for developmental abnormalities that may occur in patients with gingival fibromatosis as this may indicate the presence of a rare disorder like Zimmermann-Laband syndrome. A comprehensive medical history and physical systemic evaluation are essential for correct diagnosis and treatment of these cases.

Topics: Abnormalities, Multiple; Adolescent; Ear, External; Female; Fibromatosis, Gingival; Humans; Hypertelorism; Joint Instability; Maxilla; Nails, Malformed; Nose; Open Bite; Syndrome; Tooth, Supernumerary

Two female patients, aged 74 and 91 years respectively, had a skin ulcer on a nostril and ipsilateral sensory paralysis in the area covered by the N. trigeminus. This is known as trigeminal trophic syndrome. It may be caused by (iatrogenic) damage to the trigeminal nerve by chronic manipulation of the senseless skin. Only in case of doubt, histological examination of a tissue sample is advised to exclude malignancy. The main treatment consists of instructing the patient not to manipulate the skin. In some patients surgical reconstruction is necessary.

Topics: Aged; Aged, 80 and over; Female; Humans; Nose; Skin Ulcer; Syndrome; Trigeminal Nerve Injuries; Wound Healing

Topics: Abnormalities, Multiple; Craniosynostoses; Female; Hernia, Diaphragmatic; Humans; Infant; Karyotyping; Nose; Syndrome

Binder syndrome or maxillonasal dysplasia was first described by Binder in 1962, and is a disorder characterised by nasomaxillary hypoplasia. The records of 33 patients who had been diagnosed clinically with Binder syndrome at the Royal Children's Hospital of Melbourne were examined. Of these 33 patients, 14 were selected because they met the incusion criteria: that they had not had prior surgical and/or orthodontic treatment, and that high-quality lateral cephalometric radiographs were available. The craniofacial morphology of these patients was determined on lateral cephalometric radiographs and compared with published age- and sex-matched norms. In agreement with published studies, the anteroposterior lengths of the anterior cranial base and maxilla were reduced, and the majority of patients had a Class III skeletal relationship. Although the lower incisors tended to be prominent, both overjet and overbite 'ell within the ranges for the normal population. Despite the fact that the orthodontic and surgical treatment for patients with Binder syndrome is normally carried out within specialised units, clinicians should be aware of the variety of ways in which this condition may present.

Topics: Adolescent; Adult; Case-Control Studies; Cephalometry; Child; Facial Bones; Facies; Female; Humans; Lip; Male; Malocclusion, Angle Class III; Maxillofacial Abnormalities; Nose; Retrospective Studies; Sex Factors; Skull Base; Syndrome; Vertical Dimension

An interesting case of a seven years old boy with a combination of clinical, genetic, radiological, pathologic and dental findings is presented in view of Seckel syndrome literature. General appearance of the patient was characterized by small forehead, posteriorly slanted ears, slightly beaked nose, midfacial hypoplasia very stunted stature with microcephaly. He had borderline mental retardation with normal motor development. Class II dentoskeletal pattern with mild overjet and open bite, congenitally missing permanent teeth, microdontia, enamel hypoplasia, taurodontism and dentinal dysplasia was observed according to the clinical and radiographic examination. In conclusion, Seckel syndrome is not encountered routinely in dental clinics, this case illustrates the importance of dental care in such a rare condition.

Topics: Anodontia; Child; Craniofacial Abnormalities; Dental Enamel Hypoplasia; Dental Pulp Cavity; Dentin Dysplasia; Dwarfism; Ear, External; Forehead; Humans; Intellectual Disability; Male; Malocclusion, Angle Class II; Microcephaly; Nose; Open Bite; Syndrome; Tooth Abnormalities

The authors' review their experience of Bowen-Conradi syndrome and the available literature. They point out that there have been three previously published reports of possible Bowen-Conradi syndrome in non Hutterite children.

Topics: Abnormalities, Multiple; Christianity; Ethnicity; Failure to Thrive; Fetal Growth Retardation; Genes, Recessive; Humans; Infant; Infant, Newborn; Microcephaly; Micrognathism; Nose; Syndrome

Topics: Abnormalities, Multiple; Christianity; Ethnicity; Failure to Thrive; Fetal Growth Retardation; Genes, Recessive; Humans; Infant; Infant, Newborn; Microcephaly; Micrognathism; Nose; Syndrome

A 21-month-old Caucasian female with the combination of craniofrontonasal syndrome and a posterolateral defect of the diaphragm (type Bochdalek) is described. This is thought to be a previously undescribed combination. Pedigree analysis is consistent with an X-linked mode of inheritance of the craniofrontonasal syndrome.

Topics: Craniofacial Abnormalities; Female; Hernia, Diaphragmatic; Hernias, Diaphragmatic, Congenital; Humans; Infant; Infant, Newborn; Nose; Syndrome; Tomography, X-Ray Computed

Topics: Abnormalities, Multiple; Adult; Female; Fingers; Hair; Humans; Nose; Prognathism; Syndrome

We report a mother and son with expressionless facies, thickened facial skin, telecanthus with blepharophimosis, lacrimal duct anomalies, unusual nasal shape, and mild excess interdigital webbing. The only other family known to exhibit this constellation of features was reported by Pashayan and colleagues 23 years ago [ Pashayan et al. (1973) Am J Dis Child 125:389--393]. The similarity between these two families and a kindred described by Sommer, in which a PAX3 mutation has been defined, suggests that a developmental gene abnormality might be the cause of the blepharo-naso-facial syndrome. To date, studies of PAX3 have failed to reveal a mutation.

Topics: Abnormalities, Multiple; Adult; Child, Preschool; DNA-Binding Proteins; Eyelids; Face; Female; Humans; Male; Mutation; Nose; Paired Box Transcription Factors; PAX3 Transcription Factor; Syndrome; Transcription Factors

Setleis syndrome is characterised by a leonine appearance. We have treated an 8-year-old boy with the syndrome and describe the plastic surgical procedures done and the histological findings.

Topics: Child; Chin; Eyebrows; Facies; Humans; Lip; Male; Nose; Oculomotor Muscles; Plastic Surgery Procedures; Syndrome

A brother and a sister show very similar clinical features, including sparse hair in the first year of life, prominent nose, small mouth, micrognathia, high arched palate or cleft palate, crumpled upper helices, flexion limitation of the distal interphalangeal joint of the fingers, and mild developmental delay. Their clinical appearance suggests a premature aging phenotype, but is not really compatible with the hitherto known syndromes of that group. The mode of inheritance is likely autosomal recessive.

Topics: Abnormalities, Multiple; Aging, Premature; Cleft Palate; Ear; Female; Fingers; Hair; Humans; Infant; Infant, Newborn; Male; Micrognathism; Mouth Abnormalities; Nose; Phenotype; Syndrome; Toes

To describe the craniofacial morphology, dentition, and hand maturity in four siblings with Seckel syndrome.. Two boys and two girls, with Seckel syndrome. The children studied showed extreme growth retardation, severe microcephaly, bird-headed profile with receding chin, prominent nose, mental retardation, and extremely delayed skeletal maturation. The growth hormone axis and pituitary thyroid function was normal.. Skeletal and dental development were investigated from radiographic material, and a cephalometric analysis was performed from profile radiographs.. The craniums were remarkably small with an extremely short anterior cranial base (-4.3 to -5.5 standard units) and maxillary length (-3.8 to -4.7 SU). Differences in the morphology of the sella turcica were observed in girls and boys. Tooth maturity progressed normally. Tooth agenesis and tooth malformations were observed. Taurodontic root morphology was observed only in the girls. The approximate skeletal maturity showed retardation from 4 years 3 months to 4 years 11 months. Malformations of the hand-wrist skeleton occurred in the epiphyseal ossification centers of the middle phalangeal bone in the second, third, and fourth finger and in the distal phalangeal bone in the fifth finger. The epiphyseal ossification centers were lacking in the middle and distal phalangeal bones of the fifth finger.. The underlying gene defect in the affected children seemingly affects bone development and growth but not dental maturation and eruption.

Topics: Adolescent; Age Determination by Skeleton; Anodontia; Bone Development; Cephalometry; Child; Chin; Craniofacial Abnormalities; Epiphyses; Female; Fingers; Growth Disorders; Humans; Intellectual Disability; Male; Maxilla; Microcephaly; Nose; Odontogenesis; Sella Turcica; Skull Base; Syndrome; Tooth Abnormalities; Tooth Root; Wrist

Twenty-four matched pairs of isolates of Pasteurella haemolytica and three matched pairs of isolates of Pasteurella multocida were isolated by using a nasal swab and a transtracheal swab from individual calves with clinical signs of bovine respiratory disease. The identity of each matched pair was confirmed biochemically and serologically. The similarity of the isolates obtained from a nasal swab and from a transtracheal swab was compared by using ribotyping and antibiotic susceptibility analyses. Although the calves were sampled only once with a nasal and a transtracheal swab, when both samples were bacteriologically positive the nasal swab identified the same bacterial species as the transtracheal swab 96% of the time. The nasal swab isolate was genetically identical to the transtracheal isolate in 70% of the matched pairs. Six different ribotypes were observed for the P. haemolytica isolates, while only one ribotype was observed for the limited number of P. multocida isolates. Of the six P. haemolytica ribotypes, two ribotypes predominated. All the paired isolates displayed similar susceptibility to ceftiofur, erythromycin, tilmicosin, trimethoprim-sulfamethoxazole, and florfenicol, with some minor variations for ampicillin and spectinomycin. These results suggest that a nasal swab culture can be predictive of the bacterial pathogen within the lung when the isolates are from an acutely ill animal and can be used to determine antibiotic susceptibility.

Topics: Animals; Bacterial Typing Techniques; Cattle; Cattle Diseases; DNA, Bacterial; Microbial Sensitivity Tests; Nose; Pasteurella; Pasteurella Infections; Respiratory System; Respiratory Tract Infections; Serotyping; Syndrome; Trachea

We describe the sixth reported case of Laurin-Sandrow syndrome. This spectrum of congenital abnormalities includes complex syndactyly, often associated with ulnar duplication, mirror feet and columella deformities. We discuss Laurin-Sandrow syndrome and report on its surgical management.

Topics: Clubfoot; Female; Fingers; Humans; Infant, Newborn; Nose; Polydactyly; Syndactyly; Syndrome; Toes

Because many patients with velocardiofacial syndrome (VCFS) are first examined by otolaryngologists for ear or speech problems before being diagnosed with VCFS, we describe a series of patients with this genetic disorder, which is associated with multiple anomalies, including velopharyngeal insufficiency, cardiac defects, characteristic facial features, and learning disabilities.. We retrospectively analyzed the medical charts and available nasoendoscopic observations for 35 patients who were diagnosed with VCFS and who had a microscopic deletion in chromosome 22q11 as shown by DNA probe and fluorescence in situ hybridization.. For most patients, the medical chart documented cardiac anomalies, velopharyngeal insufficiency with hypernasal speech, and characteristic facial features including nasal, auricular, craniofacial, and ocular abnormalities. Incidence of middle ear infection with associated conductive hearing loss was also high and necessitated early placement of pressure equalization tubes. Some patients were treated with adenoidectomy for chronic otitis media; consequently, velopharyngeal insufficiency and hypernasal speech worsened. Nasoendoscopic examination as documented in the medical chart showed occult cleft palate, a small adenoid pad, and pulsation in the muscular wall.. Otolaryngologists have an important role in diagnosis and treatment of persons with VCFS and therefore should familiarize themselves with the typical history and most frequent head and neck manifestations of this syndrome.

Topics: Adolescent; Adult; Child; Child, Preschool; Chromosome Deletion; Chromosomes, Human, Pair 22; Cleft Palate; Craniofacial Abnormalities; DNA Probes; Ear, External; Endoscopy; Eye Abnormalities; Female; Hearing Loss, Conductive; Heart Defects, Congenital; Humans; In Situ Hybridization, Fluorescence; Infant; Learning Disabilities; Male; Nose; Otitis Media; Otorhinolaryngologic Diseases; Retrospective Studies; Speech Disorders; Syndrome; Velopharyngeal Insufficiency

Major characteristics of the acrocallosal syndrome include severe mental retardation, agenesis or hypoplasia of the corpus callosum, and polydactyly of fingers and toes. In the past few years, anencephaly has also been noted, together with other midline defects. We report on a nonconsanguineous, Norwegian couple with a history of two pregnancies with a male and a female fetus, respectively, with anencephaly, median cleft lip and palate, omphalocele, and preaxial polydactyly, suggesting the diagnosis of the acrocallosal syndrome. Both fetuses also lacked eyes and nose, a finding not previously reported in the acrocallosal syndrome. Microphthalmia has been reported in the hydrolethalus syndrome, which may be caused by mutations in the same gene as the acrocallosal syndrome. The present report adds support to the hypothesis that the acrocallosal and hydrolethalus syndromes may be allelic conditions. The family history is consistent with autosomal recessive inheritance.

Topics: Abnormalities, Multiple; Agenesis of Corpus Callosum; Anencephaly; Anophthalmos; Cleft Lip; Cleft Palate; Corpus Callosum; Female; Fetus; Genes, Recessive; Hernia, Umbilical; Humans; Male; Nose; Nuclear Family; Polydactyly; Pregnancy; Syndrome; Ultrasonography, Prenatal

To determine the diagnostic utility of a nasal cannula/pressure transducer (NC), in comparison to thermistor (TH), during routine, clinical nocturnal polysomnography (NPSG).. We analyzed the respiratory arousal index (RAI) using TH (RAI-TH) or NC (RAI-NC) in patients with suspected sleep-disordered breathing (SDB).. Sleep disorders center of a university-affiliated teaching hospital.. Fifty consecutive, nonselected patients referred for evaluation of suspected SDB.. Twenty patients were found to have obstructive sleep apnea/hypopnea syndrome (OSA), 25 had upper airway resistance syndrome (UARS), and 5 had primary snoring (PS). Mean RAI-NC was greater than the mean RAI-TH by 25%, 302%, and 500% in OSA, UARS, and PS, respectively. RAI-NC was >/= 14 (mean, 25.2) in UARS and < 14 (mean, 9) in PS. Mean RAI-TH was 8.4 in UARS and 1.8 in PS, with significant overlap between the two groups.. NC is more sensitive than TH in detecting respiratory events during NPSG and may represent a simple, objective means to identify UARS among patients with a range of SDB.

Topics: Adult; Aged; Aged, 80 and over; Airway Obstruction; Airway Resistance; Catheterization; Circadian Rhythm; Female; Humans; Male; Middle Aged; Nose; Polysomnography; Retrospective Studies; Sensitivity and Specificity; Sleep Apnea Syndromes; Snoring; Syndrome; Transducers, Pressure

Oral respiration associated with an obstructed nasal airway is common in orthodontic patients. For several years chronic oral respiration has been implicated as a prime causative factor in the development of "adenoid facies or the "long-face syndrome. The animal experiment reported here begins a series designed to study, as separate variables, the 2 components of chronic oral respiration: (1) chronic absence of active nasal respiration and 2) chronic mouth opening to find out what dentofacial changes can be attributed to chronic absence of active nasal respiration alone. In this pilot study, 5 growing dogs underwent tracheotomy so that significant active nasal respiration was not possible and oral respiration was not essential.

Topics: Animals; Cephalometry; Chronic Disease; Dental Arch; Disease Models, Animal; Dogs; Facial Bones; Facies; Female; Male; Malocclusion; Mandible; Maxilla; Mouth Breathing; Nasal Obstruction; Nose; Palate; Pilot Projects; Respiration; Skull; Syndrome; Tracheotomy; Zygoma

We describe an apparently unique disorder, Fronto-Ocular syndrome, present in a mother and her two daughters, and comprising trigonocephaly due to coronal and metopic craniosynostosis, ocular hypotelorism, ocular proptosis and ptosis, epicanthal folds, hypoplastic supraorbital ridges, elevated nasal bridge, thin philtrum, high-arched palate and a narrow bifrontal region. Both daughters have glabellar capillary hemangiomas, a congenital heart defect and mild developmental disabilities. Review of the literature failed to disclose any syndrome with similar findings. It is likely that this disorder represents an autosomal dominant condition, that arose as a new mutation in the mother. Mutational analysis of fibroblast growth factor receptor (FGFR) 1 and FGFR2 failed to identify the molecular basis of the disorder.

Topics: Adult; Child; Child, Preschool; Craniofacial Abnormalities; Craniosynostoses; Developmental Disabilities; Female; Follow-Up Studies; Heart Defects, Congenital; Humans; Infant; Infant, Newborn; Male; Nose; Pedigree; Syndrome

Multiple pterygium syndromes include at least 15 different entities characterized by multiple pterygia or webs of the skin and multiple congenital anomalies. We describe a female infant who presented with a distinct constellation of multiple anomalies consisting of pterygia of the inguinal, intercrural and popliteal areas, flexion contractures and arthrogryposis of some joints, craniofacial anomalies including ectropion, medial canthal web, blepharophimosis, hypoplasia of nose, oral and nasopharyngeal cavities, vocal cords and tongue, micrognathia, orolabial synechiae secondary to pterygia, low set ears, alopecia, sad and expressionless face, short neck, asymmetric nipples, anal stenosis, rectal polyp, hypoplastic labia majora, complete syndactyly of all fingers and toes, pes equinovarus, bandlike web between feet, and absence of the nails and phalangeal-palmar creases. Radiological examination showed synostosis, absence or hypoplasia of metacarpal, metatarsal and phalangeal bones on feet and hands, and hypoplasia of pelvic bones and scapulae. This pattern of anomalies does not fit entirely any of the known multiple pterygium syndromes. Autosomal recessive inheritance is most likely due to the presence of three similarly affected siblings and normal parents.

Topics: Abnormalities, Multiple; Alopecia; Bone and Bones; Facies; Family Health; Female; Fetal Death; Foot Deformities, Congenital; Genes, Recessive; Hand Deformities, Congenital; Humans; Infant; Infant, Newborn; Male; Mouth; Nose; Pharynx; Syndactyly; Syndrome; Tongue; Vocal Cords

Cerebro-oculo-nasal syndrome is a rare multiple congenital anomaly syndrome with structural anomalies of the central nervous system, anophthalmia, and abnormal nares. In this report two additional cases are presented, one of them without central nervous system and/or ocular anomalies.

Topics: Abnormalities, Multiple; Brain; Eye Abnormalities; Female; Humans; Infant, Newborn; Male; Nose; Syndrome; Tomography, X-Ray Computed

If creating an obstructive uropathy early in glomerulogenesis produces MCDK (Multicystic Dysplastic Kidney), then a very early obstruction may produce Potter's Syndrome (PS) with oligohydramnios.. Fetal lambs at 50 days' gestation underwent urethral and urachal ligation using fine SILASTIC (Dow Corning, Midland, MI) tubing and were delivered by cesarean section at 145 days' gestation. At the time of death, kidney weight, length, and lung volumes were measured. These samples were examined histologically. Urinary sodium, chloride, potassium, and osmolarity also were measured. These were compared with normal-term fetuses.. One ewe miscarried. Two of 3 of 50-day obstructive uropathy lambs survived. The 2 survivors had dysplastic kidneys. One with large gastroschisis did not have PS but the other had renal, pulmonary, and chest wall hypoplasia. Both male lambs had undescended testes with a large bladder. Kidney weights were 2 g in the PS lamb and 16 g in controls. Lung volume was 84 mL in the PS lamb and 340 mL in controls. The lamb's face was compressed and the fetus was hydropic. Urine sodium, potassium, and osmolarity levels were higher than that of controls.. This is the first successful model ligating the penile urethra and urachus in a 50-day lamb. The authors' previous 60-day model did not have PS, but an earlier obstructive uropathy caused MCDK with PS.

Topics: Abnormalities, Multiple; Animals; Disease Models, Animal; Face; Female; Fetal Diseases; Gestational Age; Immunohistochemistry; Kidney; Lung; Male; Nose; Oligohydramnios; Organ Size; Pregnancy; Pregnancy, Animal; Reference Values; Risk Assessment; Sheep; Syndrome; Ureteral Obstruction

We describe the clinical findings and natural history in two unrelated deeply mentally retarded females, now 28 and 20 years old respectively. Both presented prenatal growth retardation and severe postnatal growth retardation. Their craniofacial appearance is distinct with nasal hypoplasia, triangular mouth and thin lips. Both have a cleft palate and a retinal coloboma at the right eye. Motor development is below the age of 1 year with a complex neurological syndrome with axial hypotonia and spastic quadriplegia.

Topics: Abnormalities, Multiple; Cleft Palate; Coloboma; Craniofacial Abnormalities; Facies; Female; Growth Disorders; Humans; Intellectual Disability; Nose; Retina; Syndrome

We report on a female newborn, the youngest patient with Zimmermann-Laband syndrome hitherto reported. She had gingival hyperplasia, bulbous soft nose and ears, hypoplastic toenails, and hyperextensibility of the joints, as well as deep palmar and plantar creases, a sign not previously described in literature.

Topics: Abnormalities, Multiple; Ear, External; Female; Gingival Hyperplasia; Humans; Infant, Newborn; Joint Instability; Nails, Malformed; Nose; Syndrome

Johanson-Blizzard syndrome is a rare autosomal recessive disorder characterized by aplasia of alae nasi, pancreatic insufficiency, aplasia cutis, anorectal anomalies and postnatal growth restriction. In this case report, we describe the prenatal sonographic findings of Johanson-Blizzard syndrome in a 21-week pregnancy of a consanguineous couple. Sonographic findings of aplastic alae nasi (beak-like nose) and dilated sigmoid colon led to the prenatal diagnosis. This is the first report of the prenatal sonographic diagnosis of Johanson-Blizzard syndrome.

Topics: Adult; Anus, Imperforate; Colon, Sigmoid; Ectodermal Dysplasia; Female; Fetal Diseases; Humans; Nose; Pregnancy; Syndrome; Ultrasonography, Prenatal

Topics: Forehead; Hamartoma; Humans; Infant, Newborn; Macular Degeneration; Male; Nose; Skin Diseases; Syndrome

Topics: Abnormalities, Drug-Induced; Adult; Anticoagulants; Chondrodysplasia Punctata; Female; Femur; Fetal Death; Fetal Growth Retardation; Gestational Age; Humans; Male; Nose; Pregnancy; Syndrome; Ultrasonography, Prenatal; Warfarin

Topics: Chronic Disease; Cranial Nerve Diseases; Female; Habits; Humans; Middle Aged; Nose; Reflex; Sensation Disorders; Skin Ulcer; Syndrome; Trigeminal Nerve

A new case of Hernandez syndrome is described in a 16-year-old Brazilian girl. The syndrome consists mainly of psychomotor retardation, epilepsy, a bulbous nose and obesity.

Topics: Adolescent; Developmental Disabilities; Epilepsy; Female; Humans; Nose; Obesity; Psychomotor Performance; Syndrome

We report on four unrelated Brazilian patients with growth and mental retardation, structural anomalies of the central nervous system (CNS), mainly callosal agenesis, prominent forehead, facial asymmetry, anophthalmia, heminasal a/hypoplasia, preauricular skin tags, structural anomalies of the external ears, and atypical clefting. This combination of anomalies is unique and, to our knowledge, is a previously undescribed syndrome of unknown etiology, although one of the patients was born to a consanguineous couple, suggesting the possibility of autosomal recessive inheritance. Clinical, genetic, and differential diagnosis aspects are discussed.

Topics: Abnormalities, Multiple; Agenesis of Corpus Callosum; Anophthalmos; Branchial Region; Brazil; Central Nervous System; Cleft Lip; Consanguinity; Dwarfism; Encephalocele; Female; Humans; Infant, Newborn; Intellectual Disability; Magnetic Resonance Imaging; Male; Nose; Phenotype; Syndrome

Blepharo-naso-facial syndrome, described by Pashayan et al. (10), is characterized by telecanthus, lateral displacement and stenosis of lacrimal puncta, bulky nose, mask-like facies, trapezoïdal upper lip, torsion dystonia and mental retardation. We report on a family with this rare malformation syndrome, confirming the existence of this syndrome and its dominant inheritance. The proband had a fleshy nose, a prominant nose bridge, an hypoplastic midface, telecanthus with temporal displacement of puncta, lacrimal excretory obstruction. CNS torsion dystonia, increased deep tendon reflexes, Babinski reflexes, poor coordination and joint laxity. The proband's mother, brother and maternal grandfather also showed manifestations of the syndrome. The proband and his brother had delayed developmental milestones. Hearing impairment was present in the proband, his mother and his grandfather but was absent in the proband's brother. The blepharonasofacial syndrome was described by Pashayan et al. (10) in four members of one family, two male and one female sib and their mother. Two other sibs were unaffected. Many of the features of the blepharo-facio-nasal syndrome also occur in other well known syndromes i.e. Waardenburg syndrome. The pedigrees of the family of Pashayan et al. (10) and of our family are compatible with Mendelian dominant inheritance, either autosomal or X-linked. X-linked dominant inheritance cannot be ruled out except by male-to-male transmission, which does not occur in these families. Pashayan et al. (10) suggested that an autosomal gene with variable expressivity appears more likely. More families are needed for defining the transmission of the condition and for mapping the gene involved in the blepharo-naso-facial syndrome.

Topics: Abnormalities, Multiple; Adolescent; Craniofacial Abnormalities; Eye Abnormalities; Female; Humans; Infant; Intellectual Disability; Male; Nose; Pedigree; Syndrome; Waardenburg Syndrome

Blepharophimosis-ptosis-epicanthus syndrome (BPES) is a rare genetic condition occurring sporadically and transmitted by autosomal dominant inheritance. Type I BPES is associated with a high incidence of menstrual irregularities and infertility. Its clinical presentation is attributed to either an ovarian resistance to gonadotropins or to a true premature menopause. Two pathophysiological underlying mechanisms have been proposed: one suggests that one or more mechanisms lead to inhibition of early follicular development or follicule atresia. The other raises the possibility that BPES results from microdeletion of genetic material containing at least 2 independent genes. We report a familial case of BPES identified at birth and who required several surgical procedures. Several members of the patient's family are also affected. Early recognition of this condition may allow appropriate counselling and/or treatments including egg donation in case of hypergonadotropic hypogonadism.

Topics: Adult; Blepharophimosis; Eyelid Diseases; Female; Humans; Infertility, Female; Nose; Pedigree; Syndrome

Topics: Child, Preschool; Craniofacial Abnormalities; Developmental Disabilities; Dwarfism; Follow-Up Studies; Humans; Infant; Infant, Newborn; Intellectual Disability; Male; Muscle Hypotonia; Nose; Paraplegia; Syndrome

We report on a boy with RAPADILINO syndrome. Including this report seven children with this syndrome have been described. The patient developed a poikilodermatous skin rash, suggesting overlap with the Rothmund-Thompson syndrome.

Topics: Abnormalities, Multiple; Diarrhea; Food Hypersensitivity; Growth Disorders; Humans; Infant; Intelligence; Joint Dislocations; Limb Deformities, Congenital; Male; Nose; Palate; Patella; Radius; Syndrome; Thumb

Four major characteristics (cryptophthalmos, syndactyly, genital anomalies and affected siblings) and eight minor characteristics (alterations of the nose, ears, larynx, oral clefts, umbilical hernia, renal agenesis, skeletal anomalies and mental retardation) have been defined for the diagnosis of Fraser syndrome. The generally accepted criterion for the diagnosis is at least the presence of 2 major and one minor characteristic, or one major and four minor characteristics. The etiology of the syndrome is autosomal recessive and siblings are frequently affected.. We show the characteristics of the 7 cases of Fraser syndrome identified in the consecutive series of 1,405,374 liveborn infants and 9,042 stillborn children surveyed by the Spanish Collaborative Study of Congenital Malformations (ECEMC) between April 1976 and March 1997.. The minimal estimated frequency of Fraser syndrome is 0.43 per 100,000 liveborn infants and 11.06 per 100,000 stillbirths. As has been shown in other case studies, we have observed a wide clinical expression of this syndrome. At present it is possible to prenatally detect some of the characteristics of Fraser syndrome through ultrasound examination of eyes, digits and kidneys. Four out of the 7 cases we present here were gypsies and the frequency of the syndrome among liveborn gypsy infants is 129.3 times higher than among the non-gypsy population. Therefore, given that the frequency of the gene is higher in the gypsy population than in other ethic groups, it is recommended that a special search among gypsies for the identification of this and other autosomal recessive syndromes be performed.

Topics: Abnormalities, Multiple; Eyelids; Female; Genitalia; Humans; Infant, Newborn; Male; Nose; Orbit; Roma; Spain; Syndactyly; Syndrome

Bilateral periventricular nodular heterotopia (BPNH) is a recently recognized malformation of neuronal migration in which nodular masses of gray matter line the walls of the lateral ventricles. Most affected individuals are females with epilepsy and normal intelligence, but no other congenital anomalies. Studies in families with multiple affected individuals, always all females, have mapped one BPNH gene to chromosome Xq28. Several other BPNH syndromes associated with mental retardation and epilepsy but without significant dysmorphic facial features have been observed in males only, which may also be X-linked. This report describes a new syndrome with BPNH.. Clinical and MRI study and cognitive testing of two unrelated boys, aged 8 and 5.5 years, and review of the enlarging spectrum of syndromes associated with BPNH.. Similarities between the two boys are sufficient to delineate a new multiple congenital anomaly-mental retardation syndrome that consists of BPNH, regional cortical dysplasia, mild mental retardation, and frontonasal malformation.. The cause of this unusual syndrome is unknown; based on linkage of other BPNH syndromes to chromosome Xq28 and the report of possible X-linked inheritance of frontonasal malformation, we suspect the cause is genetic, with possible X-linked inheritance.

Topics: Abnormalities, Multiple; Cerebral Ventricles; Child; Child, Preschool; Choristoma; Epilepsy; Frontal Bone; Functional Laterality; Genetic Linkage; Humans; Intellectual Disability; Magnetic Resonance Imaging; Male; Nose; Syndrome; X Chromosome

A 32-year-old short statured woman with alopecia, typical facies, shortened angulated fingers and toes with Trichorhinophalangeal syndrome type I (TRPS I) is reported. The absence of exostosis and mental retardation rule out TRPS II. The absence of generalized shortness of all phalanges, metacarpals and metatarsals distinguish it from TRPS III. Possibly the various types of Trichorhinophalangeal syndrome are genetically identical but have a varied clinical spectrum.

Topics: Adult; Alopecia; Female; Finger Joint; Fingers; Humans; Nose; Radiography; Syndrome; Toe Joint; Toes

The Johanson-Blizzard syndrome is a rare autosomal recessive syndrome with ectodermal dysplasia. ENT findings in the syndrome include profound bilateral hearing loss, aplasia of the alae nasi and dental malformations. To date approximately 30 cases have been described.. We report our findings in a female patient who was born as the second child of consanguine parents. Pregnancy was normal, birth weight 3620 g and body length 52 cm. She was hospitalized immediately after birth because of anal atresia and facial dysmorphism with aplastic alae nasi, mongoloid eye slant and slightly dystopic ears. Bilateral symmetric profound hearing loss was diagnosed by subjective hearing tests and confirmed by auditory evoked brainstem potentials. Otoacoustic emissions were absent. Hearing aids were successfully fitted. Other malformations were a duplex of the uterus and vagina and exocrine pancreatic insufficiency. The anal atresia was corrected surgically.. In general, the exocrine pancreatic insufficiency in the Johanson-Blizzard syndrome requires careful medical management. The aplastic alae nasi require no specific therapy, while in our case in the hearing loss could be treated with hearing aids.

Topics: Abnormalities, Multiple; Audiometry, Evoked Response; Chromosome Aberrations; Chromosome Disorders; Consanguinity; Craniofacial Abnormalities; Deafness; Exocrine Pancreatic Insufficiency; Female; Genes, Recessive; Humans; Infant, Newborn; Nose; Otoacoustic Emissions, Spontaneous; Pregnancy; Syndrome

Very little information is available on the acute histopathological bronchial alterations caused by reactive airways dysfunction syndrome (RADS). We had the opportunity to carry out sequential bronchial biopsies in a subject with RADS due to chlorine (60 h, 15 days, 2 and 5 months after the acute exposure), and also to assess spirometry and bronchial responsiveness to methacholine. A 36 year old worker in a water-filtration plant (nonsmoker) abruptly inhaled high concentrations of chlorine on September 12, 1994. He experienced immediate nasal and throat burning, retrosternal burning and wheezing, and these symptoms persisted during and after the workshift. Two days later, he complained of retrosternal burning, dyspnoea and wheezing. Inspiratory wheezing was documented. His forced expiratory volume in one second (FEV1) was 66% of predicted and the provocative concentration of methacholine causing a 20% fall in FEV1 (PC20) was slightly abnormal (2.5 mg.mL-1). On the following day, the patient underwent bronchial biopsies, which showed almost complete replacement of the epithelium by a fibrinohaemorhagic exsudate. The subject was prescribed inhaled steroids. Fifteen days after the accident, the PC20 was improved to 6 mg.mL-1. Bronchial biopsies showed considerable epithelial desquamation with an inflammatory exudate and swelling of the subepithelial space. Five weeks after the accident, the PC20 was normal (57 mg.mL-1). Inhaled steroids were stopped. Two months after the accident, the PC20 deteriorated to 4 mg.mL-1. Biopsies then showed regeneration of the epithelium by basal cells and there was still a pronounced inflammatory infiltrate. Inhaled steroids were restarted. Three and five months later, the PC20 was normal (24 mg.mL-1). Bronchial biopsies showed a greatly improved epithelium and reduction of the inflammatory infiltrate. This case report shows that reactive airways dysfunction syndrome can cause acute, marked, though partially reversible, histological abnormalities. Inhaled steroids may modulate changes in bronchial responsiveness in this condition.

Topics: Adult; Aerosols; Anti-Infective Agents; Biopsy; Bronchi; Bronchial Hyperreactivity; Chest Pain; Chlorine; Dyspnea; Epithelium; Follow-Up Studies; Forced Expiratory Volume; Humans; Inflammation; Male; Nose; Occupational Diseases; Pharynx; Regeneration; Respiratory Sounds; Spirometry; Syndrome; Water Purification

The phenotype of the 22q11.2 microdeletion syndrome is quite variable. We describe 2 patients with a 22q11.2 deletion and a dimpled nasal tip, which, we suggest can be the extreme of the broad or bulbous nose commonly found in the 22q11.2 deletion syndrome, and should not be confused with the more severe nasal abnormalities seen in frontonasal dysplasia.

Topics: Chromosome Deletion; Chromosomes, Human, Pair 22; Female; Humans; Male; Nose; Phenotype; Syndrome

Craniofacial synostosis designates premature fusion in sutures of the cranial vault (calvarium). When craniofacial synostosis is associated with a syndrome (e.g., Apert, Crouzon), premature fusion of the cranial base has been postulated to occur as well. This study was designed to determine whether the primary growth disturbance in craniofacial synostosis is located at the cranial base (i.e., spheno-occipital synchondrosis) or the calvarial vault (i.e., coronal and sagittal sutures) or both. Sixty newborn New Zealand White rabbits were randomly assigned to six groups: (I) calvarial control, (II) cranial base control, (III) cranial base immobilization, (IV) coronal suture immobilization, (V) coronal and sagittal suture immobilization, and (VI) cranial base and coronal and sagittal suture immobilization. An anterior cervical microsurgical approach to the cranial base was used, while cranial vault sutures were exposed through a bicoronal scalp incision. All sutures were fused by periosteal abrasion and application of methyl cyanoacrylate. Cephalograms were taken at 30, 60, and 90 days postoperatively to assess craniofacial growth. Linear and angular measurements of facial, calvarial, and basicranial growth were subjected to multivariate analysis. Analysis indicated that (1) craniofacial length was shortened most significantly by cranial base fusion, (2) cranial base fusion and cranial vault fusion had an additive effect on craniofacial length restriction, (3) the anterior cranial base was significantly shortened by cranial base and cranial vault fusion (p < 0.05), (4) the posterior cranial base was shortened by cranial base fusion only (p < 0.05), and (5) cranial base fusion alone significantly flattened the cranial base angle (p < 0.05), whereas cranial vault fusion alone did not. These results suggest that cranial base fusion alone may account for many dysmorphic features seen in craniofacial synostosis. This model is consistent with the findings of other investigators and confirms both a primary directive and translational role of the cranial base in craniofacial growth.

Topics: Animals; Animals, Newborn; Cephalometry; Cranial Sutures; Craniosynostoses; Cyanoacrylates; Follow-Up Studies; Frontal Bone; Immobilization; Maxilla; Maxillofacial Development; Microsurgery; Multivariate Analysis; Nose; Occipital Bone; Palate; Parietal Bone; Periosteum; Rabbits; Random Allocation; Skull Base; Sphenoid Bone; Syndrome; Tissue Adhesives; Vertical Dimension

This is the first description of long-term follow-up of a case of Freeman-Sheldon syndrome. Microstomia was treated with a mouth expander for 2 to 3 hours per day before active orthodontic treatment. Separate impressions were necessary in each quadrant of both upper and lower jaws because of limited mouth opening.. Orthodontic treatment improved the patient's Class II malocclusion, which was accompanied by crowding and a deep bite.

Topics: Adolescent; Child; Contracture; Exercise Therapy; Eyelids; Facial Muscles; Follow-Up Studies; Humans; Joint Diseases; Lip; Longitudinal Studies; Male; Malocclusion, Angle Class II; Microstomia; Nose; Orthodontics, Corrective; Syndrome

Seven cases of trigeminal trophic syndrome are reported. In this rare condition, neurotrophic ulcers occur on the face, especially in the ala nasi area in a dermatome of the trigeminal nerve that has been rendered anesthetic, usually as a complication of trigeminal ablation by surgical means or injection for treatment of trigeminal neuralgia. The period from time of trigeminal nerve injury to onset of the ulcer varies from weeks to several years, with a mean of 1 to 2 years. Self-induced trauma is believed to produce the tissue destruction. Once the ulcers appear, they are extremely persistent.

Topics: Adult; Aged; Facial Dermatoses; Female; Humans; Male; Middle Aged; Nose; Skin Ulcer; Syndrome; Time Factors; Trigeminal Nerve

Oculodentodigital syndrome (O.D.) is an autosomal dominant disorder comprising facial anomalies, syndactyly, microcorneae, dental enamel hypoplasia, and leukodystrophy. We describe a four generation family with O.D. in which anomalies such as syndactyly appear congenitally, whereas neurological (i.e., leukodystrophic) signs and symptoms tend to be expressed in a more severe form and/or at an earlier age of onset in successive generations of the kindred. This pattern of phenotypic expression is consistent with the phenomenon of genetic anticipation, and we suggest that O.D. may be a trinucleotide repeat disorder.

Topics: Abnormalities, Multiple; Adult; Age of Onset; Eye Abnormalities; Face; Female; Humans; Male; Nervous System Diseases; Nose; Pedigree; Syndactyly; Syndrome; Tooth Abnormalities; Trinucleotide Repeats

A family is reported with conductive hearing loss, hyperopia, broad thumbs and broad first toes. The family resembles a previous reported family (Teunissen B, Cremers CWRJ (1990) Laryngoscope 100: 380-384) but additionally all affected members have a typical face. Overlap of the Teunissen and Cremers syndrome with the facio-audio-symphalangism syndrome and proximal symphalangism is discussed.

Topics: Abnormalities, Multiple; Adult; Child; Face; Female; Genes, Dominant; Hearing Loss, Conductive; Humans; Hyperopia; Male; Nose; Pedigree; Stapes; Syndrome; Thumb

We present a family with six children of first cousin parents, in which three present with microcephaly, hypertelorism, down-slanting palpebral fissures, ptosis, a broad nasal tip, a short webbed neck, mental retardation and seizures. Two differential diagnosis, the Noonan and the Baraitser-Winter syndrome are discussed. The possibility of the description of a new MCA/MR syndrome is raised.

Topics: Abnormalities, Multiple; Astigmatism; Blepharoptosis; Brain; Child; Child, Preschool; Consanguinity; Face; Female; Genes, Recessive; Humans; Hypertelorism; Intellectual Disability; Male; Neck; Nose; Nystagmus, Pathologic; Pedigree; Seizures; Syndrome

Topics: Abnormalities, Multiple; Adult; Cataract; Cuspid; Eye Abnormalities; Face; Female; Heart Defects, Congenital; Humans; Intellectual Disability; Nose; Radiography; Syndrome

Binder syndrome or maxillonasal dysplasia is characterized by maxillary hypoplasia and a flat, vertical nose. Inheritance is uncertain. We report on a mother and her son with Binder syndrome. The proband was the last child of a kinship of seven children. Three sisters, three brothers and the parents were normal. The proband had a maxillary hypoplasia and a flat, vertical nose. The columella was short, the nostrils had a triangular shape and the upper lip was convex with an acute nasolabial angle. There were no dental abnormalities apart from those secondary to malocclusion. Height and intelligence were normal. After an uncomplicated pregnancy, the proband delivered a boy who had low nasal bridge, hypertelorism, maxillary hypoplasia and a small nose with a broad columella. Although the majority of cases of maxillonasal dysplasia are sporadic, familial occurrence has been reported by a number of authors. In six pedigrees the recurrence was in second or third degree relatives. Recurrence in sibs with unaffected parents has been observed seven times and an affected parent and child has been rarely reported. The Binder phenotype may be heterogeneous. The pattern of abnormalities seen in this condition does not represent a causally defined entity.

Topics: Adult; Diagnosis, Differential; Female; Humans; Infant; Male; Maxillofacial Abnormalities; Nose; Syndrome

The conotruncal anomaly face syndrome (CTAF) comprises congenital heart disease and dysmorphic face, and is frequently associated with cleft palate or hypernasality. There have been many discussions about the overlap with velocardiofacial syndrome (VCF). The aim of this study was to clarify the craniofacial characteristics of CTAF patients by clinical examination, and photogrammetric and cephalometric analyses, and to clarify the differences compared to published data on VCF.. The facial features of CTAF included hypertelorism, small palpebral fissures, upward slanting of palpebral fissures, bloated eye lids, low nasal bridge, small mouth, open mouth at rest, and malformed auricles. Cephalometric features included bialveolar protrusion, small gonial angle, backward rotation of the mandibular ramus, and labial inclination of the maxillary incisors. An acute cranial base angle was also noted. These results differed from those of VCF. There were, however, no obvious pathognomonic findings for the differential diagnosis between CTAF and VCF.. Considering these findings, use of CATCH 22, the inclusive classification of cardiac anomalies, cleft palate, and dysmorphic face may be of value for the clinical understanding in these patients.

Topics: Alveolar Process; Cephalometry; Child; Child, Preschool; Cleft Palate; Craniofacial Abnormalities; Diagnosis, Differential; Ear, External; Eyelid Diseases; Eyelids; Female; Heart Defects, Congenital; Humans; Hypertelorism; Incisor; Male; Malocclusion; Mandible; Maxilla; Mouth Abnormalities; Nose; Photogrammetry; Rotation; Skull Base; Speech Disorders; Syndrome

In patients with obstructive sleep apnea syndrome (OSAS), the blood coagulation system may contribute to an increased risk of cardiovascular events, which occur most frequently in the morning. Nasal continuous positive airway pressure (NCPAP) treatment can improve the mortality of patients with OSAS. We measured the plasma fibrinogen concentration, which is an independent risk factor for cardiovascular events, in the afternoon (3:30 P.M.) and the next morning upon awakening (8:30 A.M.) in 11 patients with OSAS (apnea and hypopnea index > 20) before and after NCPAP therapy. We also measured the hematocrit, the C-reactive protein, and the total plasma protein at the same time. The plasma fibrinogen and hematocrit levels in the morning (298 +/- 16 mg/dl and 48.5 +/- 1.5%, mean +/- SEM) were significantly higher than on the previous afternoon (275 +/- 14 mg/dl and 46.6 +/- 1.3%) (fibrinogen, p < 0.02; hematocrit, p < 0.005). The whole blood viscosity (WBV) at a shear rate of 208 inverse seconds, which can be predicted based on the hematocrit and total plasma protein, was also significantly higher in the morning (4.98 +/- 0.20/s) than in the afternoon (4.73 +/- 0.17/s) (p < 0.005). These increases in the plasma fibrinogen concentration and the WBV in the morning disappeared after NCPAP treatment. The attenuation of morning increases in the plasma fibrinogen concentration and WBV induced by NCPAP treatment may contribute to an overall improvement in the mortality from cardiovascular events in patients with OSAS.

Topics: Adult; Aged; Cardiovascular Diseases; Female; Fibrinogen; Humans; Male; Middle Aged; Nose; Positive-Pressure Respiration; Predictive Value of Tests; Risk Factors; Sleep Apnea Syndromes; Syndrome

Topics: Abnormalities, Multiple; Adult; Brain; Craniosynostoses; Female; Fetal Diseases; Fetal Growth Retardation; Humans; Infant, Newborn; Intellectual Disability; Male; Microcephaly; Micrognathism; Nose; Pregnancy; Syndrome; Ultrasonography, Prenatal

The two major surgical methods for improving the midface and its profile of Binder's syndrome (commonly referred to as "dish face" deformity of "C-shape" deformity) are bone or cartilage graft and osteotomy. The bone or cartilage graft limited to the nasal sill area is ineffective in changing the flatness of the paranasal area. Furthermore, Le Fort II osteotomy has distinct disadvantages with possible damage to the patients and an additional Le Fort I osteotomy or orthodontic therapy is required to rearrange the occlusion of the patient with no malocclusion. A cartilage graft not only on the nostril sill area and the dorsum, but also around the pyriform aperture, makes it possible to augment the paranasal area and infraorbital area without osteotomy. Cartilage is an ideal material for grafting, since it tolerates absorption and is harvested in large volume. This surgical technique was applied to two Binder's syndrome patients and good midface profiles were achieved. We believe this technique would also apply to mild cases of Binder's syndrome and other maxillary hypoplasia without severe malocclusion.

Topics: Adolescent; Adult; Cartilage; Facial Bones; Female; Humans; Nose; Osteotomy; Reoperation; Rhinoplasty; Surgery, Plastic; Suture Techniques; Syndrome

A molecular-genetic characterization of deletions in part of chromosome 8q24.1 was performed in patients with Langer-Giedion syndrome (six patients) and triho-rhino-phalangeal syndrome type I (three patients) by means of Southern blot hybridization analysis, restriction fragment length polymorphism and single-strand conformation polymorphism, analysis. Four families with multiple exostosis chondrodysplasia (MECD) also underwent the same analysis. Results of deletion mapping allowed determination of the probable region of localization of the proposed gene of MECD at D8S67 locus. By means of a polymorphic DNA probe obtained from the locus an additional hybridization signal was revealed only in patients with MECD. Other polymorphic DNA probes and microsatellite sequences confirmed the results of deletion mapping and detected haplotypes on the chromosomes with a mutation in the proposed MECD gene.

Topics: Abnormalities, Multiple; Blotting, Southern; Chromosomes, Human, Pair 8; DNA Primers; Female; Fingers; Hair; Haplotypes; Humans; Langer-Giedion Syndrome; Male; Nose; Polymorphism, Restriction Fragment Length; Polymorphism, Single-Stranded Conformational; Sequence Deletion; Syndrome

We report a case of a rare congenital nasal malformation. A young male patient was seen with a unilateral duplication of the left nostril. According to the morphogenetic classification, described by van der Meulen, this nasal malformation could be classified as a type IV nasal dysplasia. The other observed abnormalities that were seen were part of the CHARGE association, which is defined as coloboma of the iris, heart deformities, choanal atresia, retarded growth, genital and ear deformities. The patient underwent a surgical correction of the nose using an L-approach, yielding a satisfactory result 1 year postoperatively. Details of the case and a review of the scarce literature are presented.

Topics: Abnormalities, Multiple; Child; Humans; Image Processing, Computer-Assisted; Male; Nose; Rhinoplasty; Surgical Flaps; Suture Techniques; Syndrome; Tomography, X-Ray Computed

In this report we describe two unrelated young males with severe mental retardation, persisting hypotonia, and constipation. A maternal uncle of one of these two boys died at the age of 18 months and presented the same clinical symptoms. The triad mental retardation, hypotonia, constipation is a characteristic finding in the FG syndrome, an X-linked mental retardation syndrome. At the present time, there is increasing evidence that the FG syndrome-phenotype may be present in different XLMR conditions, e.g. the fragile X syndrome. In addition to the triad severe mental retardation, hypotonia, constipation, the present two male index patients had a characteristic facial appearance with nasal hypoplasia, relative microcephaly and pre- and postnatal overgrowth. The question is raised whether the present two males are examples of a specific entity within the FG-syndrome-like phenotype.

Topics: Abnormalities, Multiple; Child, Preschool; Constipation; Face; Growth; Humans; Intellectual Disability; Male; Microcephaly; Muscle Hypotonia; Nose; Syndrome

In part I of this study, a method for the objective evaluation of profile nasal esthetics was detailed, and normative values for males and females were presented. In part II, identical methodology was applied to the preoperative lateral cephalograms of 13 female patients with vertical maxillary excess to determine how the nasal profile esthetics of these patients varies from the norm. This data was compared to the normative data established for females in part I. Results determined that patients with vertical maxillary excess have increased nasal length caused by a more superiorly positioned soft tissue nasion, decreased thickness of soft tissue at rhinion, increased nasal form angle, and increased absolute nasal tip angle related to an increased inclination of the cranial base, increased forward projection of the anterior nasal spine (tip support), and decreased incidence of supratip break. These findings suggest a characteristic appearance similar to the type II nasal characteristic (aquiline form) established in part I.

Topics: Adolescent; Adult; Cephalometry; Esthetics; Face; Facial Bones; Female; Humans; Male; Malocclusion; Maxilla; Maxillofacial Development; Nose; Reference Values; Syndrome; Vertical Dimension

Trichorhinophalangeal syndrome (TRPS) comprises a distinctive combination of hair, facial and bony abnormalities with variable expression. A 20-year-old man with TRPS was seen because of marked androgenetic alopecia. Scanning electron-microscopic studies of the hair revealed flattened hair with an elliptoid transverse section pattern. Mechanical behavior of the hair was abnormal with a significant increase in the viscous parameter, indicating a decreased intermolecular bridging within the keratin matrix. The dermatologist confronted with premature or marked alopecia in young adults should always consider the possibility of an underlying congenital syndrome involving the hair and prompt further investigation.

Topics: Adult; Alopecia; Elasticity; Finger Joint; Fingers; Hair; Humans; Keratins; Male; Microscopy, Electron, Scanning; Nose; Syndrome; Viscosity

An unusual variant of Hanhart's syndrome associated with facial asymmetry in a female patient is presented together with surgical treatment of her facial anomalies. Following reconstruction which included bimaxillary osteotomies and osteopericranial and pericranial flaps, a good aesthetic result was achieved which enabled the psychological and social rehabilitation of the patient.

Topics: Abnormalities, Multiple; Adult; Facial Asymmetry; Female; Humans; Limb Deformities, Congenital; Micrognathism; Nose; Syndrome; Tooth Abnormalities

Fraser syndrome is a rare autosomal recessive disorder whose major manifestations are cryptophthalmos, syndactyly and genital abnormalities. These patients also frequently have malformations of the ears, nose and/or larynx. The diagnosis is usually made at birth from the obvious malformations, although occasionally made on prenatal ultrasound. Treatment is dependent on which malformations are present and genetic counseling is indicated. Prognosis is dependent on the severity of renal and laryngeal malformations.

Topics: Coloboma; Ear; Eye Abnormalities; Female; Genitalia; Humans; Infant, Newborn; Larynx; Nose; Prognosis; Severity of Illness Index; Syndactyly; Syndrome

We report on a 4-year-old boy with typical frontonasal dysostosis and an apparently balanced de novo translocation involving chromosomes 3, 7, and 11, and four breakpoints. The karyotype was 46,XY,t(7;3)(3;11) (7pter-->7q21.3::3q27-->3qter;3pter-->3 q23::11q21-->11qter; 11pter-->11q21::3q23-->3q27::7q21.3-->7 qter). In situ hybridization with a chromosome 3 painting probe confirmed the interpretation from GTG banding. The child had a widow's peak, marked hypertelorism, absence of the nasal tip, and widely separated nares. He also had an atrial septal defect, micropenis, small testes, clubfeet, scoliosis, block C2-4, and structural brain abnormalities on MRI. In review we found two other cases of frontonasal dysostosis with chromosome abnormalities, neither of which was similar to our case. The presence of a de novo (apparently) balanced translocation in our patient may help to locate the gene(s) for frontonasal dysplasia and perhaps other midline craniofacial malformations.

Topics: Abnormalities, Multiple; Child, Preschool; Chromosomes, Human, Pair 11; Chromosomes, Human, Pair 3; Chromosomes, Human, Pair 7; Face; Hazardous Waste; Humans; In Situ Hybridization; Karyotyping; Male; Nose; Syndrome; Translocation, Genetic

The facial anomaly of Johanson-Blizzard syndrome and its correction are described. The facial anomaly was characterized by cleft-like bony defects located in the inferomedial portion of the orbit apart from the hypoplastic maxilla and the absence of nasal alae. Correction of the facial skeleton was performed using a free vascularized iliac bone graft and tripartite osteotomy to correct the shape of the orbit and elongate the severely hypoplastic maxilla. Those procedures were effective to a certain degree in correcting the facial anomaly of Johanson-Blizzard syndrome.

Topics: Bone Lengthening; Child; Craniofacial Abnormalities; Craniotomy; Ectodermal Dysplasia; Exocrine Pancreatic Insufficiency; Facial Bones; Female; Humans; Maxilla; Microsurgery; Nose; Orbit; Syndrome; Tomography, X-Ray Computed

Trichorhinophalangeal syndrome has three characteristic signs: slow-growing hair, pearshaped nose with high philtrum and bradyphalangia with wedge-shaped epiphyses. We report two familial cases of type I trichorhinophalangeal syndrome. Our aim was to better identify the hair anomalies. A 22-year-old boy and his 65-year-old mother had thin sparse hair with recessed fronto-temporo-occipital hair lines. The trichogramme of the occipital region showed 52% dystrophic roots and 48% telogenic roots. Polarized light revealed monochromal hair with clear << finger-end >> rhexis. Electron scan microscopy showed thin, oval, flat or cannulated hairs and folded cuticle cells. A transverse zone in the prerhexis area had no cuticle cells and << finger-end >> fractures. Histological examination showed a normal follicle count. Sebaceous and sudoriparous glands were normal. Other characteristics of trichorhinophalangeal syndrome (facial deformity with pear-shaped nose with high philtrum, clinobrachydactylia of the fingers and toes, and radiologically wedge-shaped epiphyses) were also noted. Caryotypes were normal. We emphasize the importance of folded cuticle cells and clear rhexis leading to << finger-end >> fractures. These anomalies could serve as markers in cases with few suggestive signs.

Topics: Abnormalities, Multiple; Adult; Aged; Epiphyses; Female; Fingers; Hair; Hand Deformities, Congenital; Humans; Hypotrichosis; Male; Microscopy, Electron, Scanning; Nose; Syndrome

A single case of trichorhinophalangeal syndrome, type I, is reported. The patient manifested the complete triad of the syndrome: thin, sparse, slow-growing scalp hairs; a pear-shaped nose; and cone-shaped epiphysis in some interphalangeal articulations of both hands. In addition, tooth decay, pectus carinatum, lumbar scoliosis, and polycystic ovary were observed. This multisystemic disorder is apparently rare, but its prevalence is probably underestimated in the dermatologic literature.

Topics: Abnormalities, Multiple; Adult; Epiphyses; Female; Finger Joint; Fingers; Hair; Humans; Nose; Polycystic Ovary Syndrome; Scoliosis; Sternum; Syndrome

Topics: Abnormalities, Multiple; Acute Disease; Adult; Alkalosis; Diagnosis, Differential; Female; Humans; Infant; Microcephaly; Nose; Pyloric Stenosis; Respiration Disorders; Syndrome

The unoperated crano-orbito-zygomatic complex of 18 children (mean 4.7 years) with frontonasal dysplasia (FND) and 12 children (mean 1.1 years) with crainofrontonasal dysplasia (CFND) was quantified by 15 standard measurements performed on either computed tomography scans or facial tomograms. The results were compared with age-matched control values. In the FND group, the mean anterior interorbital and mid-interorbital distances were significantly increased at 148% and 118% of normal, and in the CFND patients, at 177% and 140% of normal. Excessive medial orbital wall protrusion (mean, 145% of normal in FND and 177% in CFND), shortened zygomatic arch lengths (mean, 94% of normal in FND and 91% in CFND), and reduced cephalic lengths (mean, 96% of normal in FND and 83% in CFND) were all observed. An expanded interzygomatic buttress distance was documented only in the CFND group, at 11% of normal. The clinical presentation of craniofacial deformities such as FND and CFND can be objectively described by a numerical analysis of the bony pathology.

Topics: Adolescent; Child; Child, Preschool; Craniosynostoses; Facial Bones; Female; Humans; Hypertelorism; Infant; Male; Nose; Observer Variation; Reproducibility of Results; Syndrome; Tomography, X-Ray Computed

Tricho-rhino-phalangeal syndrome Type III (TRPS III) is a newly defined genetic entity. Only 9 patients in a family and one sporadic patient have been reported. We add another family in which 4 individuals in 3 generations are affected with this autosomal dominant trait. Although they manifested short stature, sparse hair, "pear-shaped" nose, and cone-shaped epiphyses, sharing these findings with TRPS Type I, the presence of a severe form of generalized shortness of all phalanges and metacarpals, and the absences of mental deficiency and exostoses in this family distinguish the disorder from the TRPS Types I and II. Their manifestations are quite similar to those of the patients reported as TRPS III (Sugio-Kajii syndrome).

Topics: Abnormalities, Multiple; Adult; Aged; Diagnosis, Differential; Female; Fingers; Genes, Dominant; Hair; Humans; Infant; Male; Nose; Pedigree; Syndrome; Toes

Topics: Abnormalities, Multiple; Adult; Child, Preschool; Female; Fingers; Hair; Humans; Infant; Male; Nose; Radiography; Syndrome; Toes

Congenital and acquired facial deformities in which the nose is small relative to the rest of the face present a problem in reconstruction. Binder's syndrome is the most common of such deformities, where the noise is both short and lacking tip projection. A method of reconstructing such deformities is described. By means of a coronal skin incision and an approach through the upper buccal sulcus, the nasal soft tissues including the alar cartilages are mobilized. Nasal lengthening and improved tip projection are achieved and supported by a cantilevered graft of lyocartilage. The defect created within the nasal vestibule is repaired by means of mucosal flaps raised from the upper buccal sulcus. Ten cases have so far been treated successfully using this technique we call mask rhinoplasty.

Topics: Adult; Cartilage; Child; Female; Humans; Male; Maxilla; Nasal Bone; Nose; Rhinoplasty; Surgical Flaps; Syndrome

We report on 2 unrelated Brazilian girls, born to nonconsanguineous parents, and presenting structural central nervous system defects, hydrocephaly, macrocephaly, craniosynostosis, prominent forehead, anophthalmia, and abnormal nares. These patients may have a previously undescribed recurrent-pattern cerebro-oculo-nasal syndrome.

Topics: Abnormalities, Multiple; Anophthalmos; Brain; Brazil; Cerebral Ventricles; Child, Preschool; Female; Humans; Infant; Intellectual Disability; Nose; Phenotype; Syndrome; Tooth Abnormalities

We report a fetus with hydrops, ectrodactyly, syndactyly, duplication of the great toes and several other features. From a review of the literature we suggest that this constellation of abnormalities has not previously been reported.

Topics: Abnormalities, Multiple; Clubfoot; Ear; Edema; Fetus; Fingers; Humans; Kidney; Male; Mandible; Nose; Syndrome; Toes

Besides nose obstruction other etiological factors can be advanced to explain the development of oral respiration: malformation of the face (Binder's syndrome, Bimler's microrhinodysplasia, Apert's and Crouzon's syndrome); alterations or deviations of the tongue (Robin's syndrome, macroglossia, ankyloglossia); lip closure problems.

Topics: Child; Child, Preschool; Facial Bones; Humans; Infant; Macroglossia; Malocclusion; Mouth Breathing; Nose; Syndrome; Tongue

A malformed female infant is described. In addition to cardiac, renal, and skeletal (rib) anomalies, severe intrauterine growth retardation and distinct facial dysmorphism were present. The question is raised whether this child represents a new syndrome.

Topics: Abnormalities, Multiple; Blepharophimosis; Female; Fetal Growth Retardation; Humans; Infant, Newborn; Nose; Syndrome

Tricho-rhino-phalangeal (TRP) syndromes type I and II are caused by a defective gene located on chromosome 8q24.1. We report a family with 2 sibs affected with TRP type I in combination with an apparently balanced chromosome (8;18) translocation involving 8q24.11. It is very likely that the 8q24 translocation breakpoint is physically linked to the TRP gene(s), thereby facilitating future efforts to clone the TRP gene(s).

Topics: Abnormalities, Multiple; Adult; Chromosome Banding; Chromosomes, Human, Pair 18; Chromosomes, Human, Pair 8; Female; Fingers; Hair; Humans; Infant; Karyotyping; Male; Nose; Osteochondrodysplasias; Pelvis; Syndrome; Translocation, Genetic

A 4 year old girl is described with severe mental retardation, peculiar face with nasal hypoplasia, sparse hair, genital hypoplasia, truncal obesity, puffy hands, and small feet with complete cutaneous syndactyly of the second and third toes.

Topics: Abnormalities, Multiple; Child, Preschool; Face; Female; Genitalia, Female; Hair; Humans; Intellectual Disability; Nose; Syndrome; Toes

We report on 12 Brazilian boys with the Optiz G/BBB syndrome associated with CNS midline anomalies, namely, Dandy-Walker anomaly (two patients), enlarged cisterna magna (four patients), enlarged 4th ventricle (four patients), and callosal a/hypoplasia (two patients). These signs clearly show the involvement of the CNS midline in the Opitz G/BBB syndrome.

Topics: Abnormalities, Multiple; Adolescent; Adult; Brazil; Central Nervous System; Child; Child, Preschool; Dandy-Walker Syndrome; Female; Humans; Hypertelorism; Infant; Male; Mouth Abnormalities; Nose; Syndrome

Fraser Syndrome is a rare autosomal recessive disorder (Gupta and Saxena, 1962; Smith, 1982). The most consistent feature is cryptophthalmos (hidden eye), but frequently abnormalities of the ears (meatal stenosis, dysplastic pinna), nose (hypoplastic notched nares, choanal stenosis or atresia), and larynx (glottic web, subglottic stenosis), as well as numerous other anomalies are encountered. We present four cases that have been treated at the Hospital for Sick Children in the last ten years, and describe the various ENT anomalies characteristic of this syndrome.

Topics: Abnormalities, Multiple; Child; Child, Preschool; Ear, External; Eyelids; Female; Humans; Larynx; Male; Nose; Phenotype; Syndrome

Cryptophthalmos refers to a group of uncommon congenital anomalies of eyelid formation that can occur alone or in combination with multiple congenital anomalies as part of the Fraser syndrome. We present a case of bilateral abortive cryptophthalmos in a child with Fraser syndrome and discuss the problems of surgical management. A brief discussion of isolated and syndromic cryptophthalmos, including normal eyelid development, the pathogenesis of cryptophthalmos, and the management options follows.

Topics: Abnormalities, Multiple; Coloboma; Conjunctiva; Eyelids; Humans; Infant, Newborn; Male; Nose; Syndrome

Topics: Abnormalities, Multiple; Adult; Blepharoptosis; Chromosome Deletion; Chromosomes, Human, Pair 11; Humans; Hypertelorism; Male; Micrognathism; Nose; Syndrome

An autosomal dominant dysplasia-malformation syndrome affecting seven individuals in one family is reported. The components of the syndrome include congenital nasopalpebral lipoma, telecanthus, and bilateral colobomas of upper and lower lids without midface hypoplasia. It appears to be the second recorded example resulting from an autosomal dominant gene fully penetrant in both sexes.

Topics: Child, Preschool; Coloboma; Eyelids; Humans; Lipoma; Male; Nose; Pedigree; Syndrome

We have seen 4 Japanese patients with Binder's syndrome or maxillonasal dysostosis. The diagnosis of Binder's syndrome was very difficult, based on facial appearances alone. Although the flattened nasal tip was quite unusual in Japanese individuals, the midface retrusion and flattened nasal bridge would be considered within normal limits. Consequently, the diagnosis of Binder's syndrome is only rarely made in Japanese persons. The peculiarities of this syndrome in Japanese patients are discussed and our surgical methods are shown.

Topics: Adolescent; Child; Congenital Abnormalities; Female; Humans; Japan; Male; Nose; Rhinoplasty; Syndrome

We report on a sister and brother with severe mental retardation, bulbous tip of the nose, long columella, cleft lip and palate, heart and intestinal anomalies, and growth retardation. This appears to be a previously unreported, autosomal recessive condition, given high resolution prometaphase chromosomes are normal.

Topics: Abnormalities, Multiple; Child; Female; Genes, Recessive; Heart Defects, Congenital; Humans; Infant; Intellectual Disability; Iris; Male; Nose; Syndrome

Three Japanese patients with trigeminal trophic syndrome, a rare dermatosis in Japan, were reported. Cutaneous lesions were a long-standing ulcer and destruction of the right ala nasi in case 1, a persistent deep ulceration on the forehead after a small trauma in case 2, and development of small, discrete ulcers on the right forehead during the treatment of a postherpetic neuralgia in case 3. A protective device was very effective in one patient.

Topics: Aged; Diabetes Complications; Facial Dermatoses; Female; Herpes Zoster; Humans; Male; Middle Aged; Nose; Syndrome; Trigeminal Neuralgia; Ulcer

Hereditary gingival fibromatosis is frequently an isolated condition of little consequence apart from a cosmetic problem and occasional associations with hypertrichosis and/or epilepsy. There are, however, several uncommon or rare eponymous syndromes described in which gingival fibromatosis can be a feature: these include the Zimmermann-Laband, Murray-Puretic-Drescher, Rutherfurd, Cowden and Cross syndromes. This paper describes two siblings with features of the rare Zimmermann-Laband syndrome and discusses the major aspects of this and other eponymous syndromes that may be associated with hereditary gingival fibromatosis.

Topics: Adolescent; Child; Ear, External; Female; Fibromatosis, Gingival; Fingers; Humans; Joint Diseases; Male; Nails, Malformed; Nose; Syndrome; Toes

The clinical and radiographic changes in a case of oculodentodigital syndrome are presented. The characteristic features of this rare developmental disorder, microphthalmus with microcornea and iris anomalies, hypertelorism, thin nose with hypoplastic alae and anteverted nostrils, syndactyly with camptodactyly and clinodactyly of the fourth and fifth fingers associated with bony anomalies of the middle phalanges of the fifth fingers and toes, were all present. In addition, histological examination of a lateral incisor showed the enamel dysplasia to be due to enamel hypoplasia; the dentine also showed marked hypocalcification. There were widespread pulp denticles and hypercementosis throughout the dentition. Both the patient and his mother had coronoid hypoplasia.

Topics: Adult; Dental Enamel Hypoplasia; Eye Abnormalities; Fingers; Humans; Hypercementosis; Jaw Abnormalities; Male; Nose; Syndrome; Toes; Tooth Calcification

An unknown syndrome of oxycephaly, nose deformity, hair growth on the skin at the base of the nose, symmetrical cyst formation on the upper lip, and aplasia of the nasolacrimal ducts in a mother and her three children is presented. This syndrome showed autosomal dominant inheritance. All three children were operated on. Oxycephaly and lip deformity in two of the children and hypertelorism that existed in addition to the other anomalies in the third were all corrected. All corrective surgery was performed during a single session for each child.

Topics: Abnormalities, Multiple; Adult; Child; Craniosynostoses; Cysts; Female; Humans; Lip; Male; Nasolacrimal Duct; Nose; Pedigree; Syndrome

Topics: Female; Genes, Dominant; Humans; Male; Nose; Syndrome; Terminology as Topic

A case is reported of median cleft face syndrome with bifid tongue and odontoid peg and failure of formation of the anterior arch of the atlas. These are features which have not been reported previously. The preoperative CT demonstrated its potential to enhance our understanding of complex and rare craniofacial deformities.

Topics: Abnormalities, Multiple; Cervical Atlas; Cleft Palate; Face; Female; Humans; Hypertelorism; Infant, Newborn; Lip; Mandible; Nose; Syndrome; Tongue

Binder's syndrome or nasomaxillary dysplasia is a disorder characterized by hypoplastic development of the midportion of the midfacial skeleton and its associated soft tissue manifestations. The disorder is probably more common than initially believed with only 40 cases described previous to 1980. However, since 1980, 127 cases have been reported. One case of Binder's syndrome treated with onlay split cranial (calvarial) bone grafts is presented. The technique of using split calvarial bone grafts has become increasingly popular in craniofacial surgery and facial trauma reconstruction. A literature review of Binder's syndrome is outlined and the technique of using split calvarial bone grafts is described. An analysis of the skeleton and soft tissue characteristics of Binder's syndrome is detailed and treatment options discussed.

Topics: Adult; Humans; Maxilla; Nose; Skull; Syndrome

We describe the seventh patient with the Floating-Harbor syndrome. Similar to previous cases in the literature this girl presented with proportionate intrauterine and postnatal growth retardation, normocephaly, triangular face with bulbous nose, long eyelashes, short upper lip, small vermilion border of upper lip, dorsally rotated ears, deep nuchal hair line, hirsutism, and clinodactyly of little fingers. She exhibited mental retardation and retarded speech development. Clinical symptoms and differential diagnosis of this rare syndrome are briefly discussed.

Topics: Abnormalities, Multiple; Child; Diagnosis, Differential; Eye Abnormalities; Female; Fetal Growth Retardation; Fingers; Growth Disorders; Hirsutism; Humans; Intellectual Disability; Mouth Abnormalities; Nose; Syndrome

The authors refer to cases of associated orthopedic malformations reported in 17 patients with Binder's syndrome. Aside from already known anomalies of the cervical spine detected in 58.8% of cases, finger malformations are found in one third of single X-chromosome carriers (boys or Turner's syndrome). This calls for studying these malformations in parallel with X-linked minor isolated recessive chondrodystrophy.

Topics: Abnormalities, Multiple; Adolescent; Adult; Cervical Vertebrae; Child; Child, Preschool; Female; Fingers; Humans; Male; Maxilla; Nose; Spinal Diseases; Syndrome; Turner Syndrome

Kabuki make-up syndrome (Niikawa-Kuroki syndrome), recognized in Japan in 1981, is characterized by mental and growth retardation with specific craniofacial malformation such as lower palpebral eversion and depressed nasal tip. In this paper we describe a case associated with cleft lip and palate. Attention should be paid by maxillofacial surgeons to this syndrome, since 41% of the cases have been associated with cleft lip and palate (Niikawa et al., 1988; Tonoki and Niikawa, 1988).

Topics: Cleft Lip; Cleft Palate; Eyebrows; Eyelids; Female; Humans; Infant; Infant, Newborn; Intellectual Disability; Nose; Syndrome

We describe 5 children with midline facial anomalies and iris colobomata reminiscent of frontonasal "dysplasia." Two patients have, in addition, abnormalities of the eyelids and one of them probably has the rare autosomal recessive condition frontofacionasal "dysplasia." The patients may have a new syndrome of midline facial defects, iris colobomata, and mental retardation.

Topics: Abnormalities, Multiple; Adult; Child, Preschool; Coloboma; Developmental Disabilities; Face; Female; Genes, Recessive; Humans; Hypertelorism; Infant; Iris; Male; Nose; Syndrome

A description is presented of a rarely observed frontonasal dysplasia (DeMyer's syndrome) whose diagnosis confirmed by X-ray and ophthalmological examinations was based on demonstration of a wide midline cleft of the facial skeleton, hypertelorism of eyes, and coexisting severe and infrequently occurring in this syndrome deformity of lower extremities. The authors think that the cause of DeMyer's syndrome in this case should be sought in the action of many various harmful factors.

Topics: Abnormalities, Multiple; Facial Bones; Humans; Infant, Newborn; Male; Nose; Syndrome

A case of Laband syndrome in an 8-yr-old girl is presented. The case is sporadic. The patient manifests enlargement of the soft tissue of the hard palate and the gingiva, which partly or completely covers the crowns of the teeth and macroglossia. The cartilagenous part of the nose and the ears is large and soft. She has synophrys and thick, straight hair. The nails of the fingers and toes are dysplastic. The girl exhibits no other abnormality, except an IQ of 61.

Topics: Abnormalities, Multiple; Child; Female; Fibromatosis, Gingival; Humans; Intellectual Disability; Macroglossia; Nails, Malformed; Nose; Syndrome

Topics: Cleft Palate; Foot Deformities, Congenital; Hand Deformities, Congenital; Humans; Nose; Syndrome

Topics: Child; Diagnosis, Differential; Female; Humans; Intelligence; Maxilla; Nose; Prevalence; Radiography; Syndrome; Tooth Abnormalities

We report a 19-year-old boy with an interstitial deletion of the long arm of chromosome 8 (46, XY, del(8)(pter----q23.3: :q24.13----qter)). He shows the typical clinical symptoms of tricho-rhino-phalangeal syndrome (TRPI) and severe mental retardation, however without multiple exostoses. This is the second report of a combination of abnormalities and interstitial deletion of 8q.

Topics: Adult; Chromosome Deletion; Chromosomes, Human, Pair 8; Foot Deformities, Congenital; Hand Deformities, Congenital; Humans; Hypotrichosis; Intellectual Disability; Male; Nose; Syndrome

Maternal and paternal age and birth order of 14 sporadic cases of the autosomal dominant blepharophimosis-ptosis-epicanthus inversus-telecanthus (BPEI) phenotype were compared to similar statistics from control individuals. Correlation coefficients were determined for paternal age and incidence, maternal age and incidence, and birth order and incidence. The partial correlation coefficient of the father's age and incidence with maternal age and birth order held constant was -0.02 and that for the mother's age and incidence with paternal age and birth order held constant was 0.57. Maternal age seems to have a stronger influence than the paternal age in this group of BPEI patients.

Topics: Abnormalities, Multiple; Adult; Blepharoptosis; Eyelids; Female; Humans; Male; Maternal Age; Nose; Paternal Age; Phenotype; Skin Abnormalities; Syndrome

We report on a newborn male with deletion of part of 11q, the 27th reported case. Our patient had some of the clinical characteristics of the 11q- syndrome, but his male gender, liveborn status, q21 breakpoint, and mosaicism were unusual. In addition, he demonstrated holoprosencephaly, with cyclopia and arhinencephaly, manifestations previously unreported in the 11q- syndrome. We discuss the above points and review the literature on 11q-.

Topics: Abnormalities, Multiple; Brain; Chromosome Deletion; Chromosomes, Human, Pair 11; Ear, External; Eye Abnormalities; Humans; Hydrocephalus; Hypospadias; Infant, Newborn; Male; Mosaicism; Nose; Syndrome

An infant showing an unusual combination of craniofacial abnormalities is described. Synotia, astomia, a rudimentary proboscis, and a central placode in the hairline were observed. Serial sections of the head were examined microscopically. The proboscis contained a mass of striated muscle, but no bony or nervous tissue. Cyclopia was suggested by the central placode, the latter consisting of a thin, stratified, squamous nonkeratinized epithelium attached to an incomplete orbit by a strand of connective tissue. The orbit consisted of a bony shelf with bundles of nerves, striated muscle, and degenerate retinal tissue. The central nervous system cranial to the hindbrain was poorly developed. The midbrain and diencephalon were rudimentary, and there was poor separation of the small cerebral hemispheres. The auditory system was well represented. The maxilla and mandible were present, but there was no evidence of tooth formation. The wide range of midline abnormalities and anodontia suggest that this is a case of cranial neural crest deficiency.

Topics: Anodontia; Brain; Facial Bones; Humans; Infant, Newborn; Male; Nose; Orbit; Skull; Syndrome

Frontonasal dysplasia (FND) is a condition with a more or less severe ocular hypertelorism and, sometimes, a narrowing of the palpebral fissures. The nose is broad and flattened with clefting; it may be bifid or completely divided in two halves. In extreme cases, the central nervous system is concerned and there is a mental deficiency. There is no coronal craniosynostosis in pure FND. Other malformations can be observed. Among the cases reported in the literature, most of them are sporadic but they may be familial. We report here a sporadic case of F.N.D. in which scan examination of the brain shows a possible cephalocele. The literature is briefly reviewed.

Topics: Female; Humans; Nose; Syndrome

A 17-month-old girl with a partial trisomy of distal 8q derived from her mother, who has a mosaic 8q23.3----q24.13 deletion, was studied. Both showed a relatively mild phenotype of trichorhinophalangeal syndrome I. The karyotype of the proposita was designated as: 46,XX,-8,+der(8),inv ins(8;8)(p23.1;q24.13q23.3)mat. Her phenotype was considered similar to that of her mother despite the trisomies of distal 8q. She seems to be the first example of a partial trisomy of distal 8q derived from a parent with an interstitial deletion of a distal 8q segment and trichorhinophalangeal syndrome I.

Topics: Adult; Chromosome Deletion; Chromosomes, Human, Pair 8; Female; Fingers; Hair Diseases; Humans; Infant; Karyotyping; Mosaicism; Nose; Syndrome; Trisomy

In the evaluation of a patient for cosmetic surgery, an underlying congenital origin for the deformities noted, with possible expression in multiple organ systems, should always be considered. In this case, a 19-year-old woman requesting rhinoplasty exhibited facial anomalies: lack of quadrangular and lower lateral cartilages, small bony dorsum, underdeveloped aural cartilage, and infantile larynx and trachea. Otherwise healthy, she recalled having recurrent bouts of croup until she was 15 years old, exercise limitation secondary to stridor, and a family history of nasal hypoplasia. Genetic referral diagnosed her condition as Opitz-BBB/G compound syndrome (oculogenitolaryngeal syndrome), and we here review its head and neck manifestations. Suspected agenesis of nasal cartilage, unreported in previous literature (to our knowledge), was confirmed intraoperatively and presented a unique challenge for reconstruction, including a restricted choice of anesthesia and a need for banked cartilage.

Topics: Abnormalities, Multiple; Adult; Cartilage; Ear Cartilage; Female; Humans; Hypertelorism; Larynx; Nose; Rhinoplasty; Syndrome; Trachea

Here we report on a 13-year-old boy who had an interstitial deletion of the long arm of chromosome 8 [46,XY,del(8)(pter----q23.3::q24.13----qter)]. He had the facial features of the tricho-rhino-phalangeal (TRP) syndrome and severe mental retardation, but lacked multiple exostoses. This is the first report with such a peculiar combination of abnormalities and interstitial deletion of 8q.

Topics: Chromosome Banding; Chromosome Deletion; Chromosomes, Human, Pair 8; Exostoses, Multiple Hereditary; Facial Expression; Fingers; Hair; Humans; Infant, Newborn; Intellectual Disability; Male; Nose; Phenotype; Syndrome

A three generation family from northern Sweden with both trichorhinophalangeal syndrome type I (TRP I) and systemic lupus erythematosus (SLE)-like syndrome with complement C4 homozygous null alleles is described. Five family members in three generations were affected by the TRP I syndrome, indicating autosomal dominant inheritance. Two members had clinical and laboratory signs of SLE and two other members SLE-like syndrome. All living family members in the first and second generation had homozygous C4A null alleles. In three of the adults the two syndromes occurred simultaneously, probably in this family by coincidence.

Topics: Abnormalities, Multiple; Adolescent; Aged; Alleles; Anaphylatoxins; Complement C4a; Female; Fingers; Genes, Dominant; Hair Diseases; Homozygote; Humans; Lupus Erythematosus, Systemic; Male; Middle Aged; Nose; Pedigree; Syndrome

Maxillary hypoplasia and retrusion is complex. It may involve the dentoalveolar area, or it may involve the whole midface. It may be difficult to recognize, since the patient may come only with the complaint of nasal deformity, and the occlusion may be normal. It may be difficult to treat, as in the severe Binder's syndrome, where in addition to the bony deformity, the facial mask is deficient and obviously in the wrong position. To treat the condition the surgeon must have an aesthetic sense. It is not like the situation when only the maxilla is involved; this tends to be mechanical and is related to dental malocclusion. In these patients, an aesthetic appreciation of the nose and its relationship to the maxilla, infraorbital rims, and frontal area is paramount. Unless this complete approach is used, the patient will be undertreated and end up unhappy. Patients can readily appreciate the position and the contours of the nose, but they do not understand the subtleties of the lack of a bony foundation when there is maxillary hypoplasia. Not only does this involve a high degree of aesthetic appreciation on the part of the surgeon, it also necessitates a considerable ability to convey to the patients that the problem is not the simple one that they had first imagined. When all of these subtleties are appreciated, it is possible to develop a degree of sophistication in the treatment of these patients that will yield excellent results.

Topics: Humans; Maxilla; Nose; Osteotomy; Patient Care Planning; Prognathism; Rhinoplasty; Surgery, Plastic; Surgical Flaps; Syndrome

Topics: Abnormalities, Multiple; Child, Preschool; Deafness; Humans; Hypopituitarism; Intellectual Disability; Male; Nose; Syndrome

Topics: Abnormalities, Multiple; Female; Genes, Dominant; Humans; Male; Nose; Skull; Syndrome

Binder's syndrome (maxillonasal dysplasia) is a disorder characterized by nasomaxillary hypoplasia. To ascertain the extent of underdevelopment of the midfacial skeleton and soft tissues, 19 of 29 patients with Binder's syndrome were retrospectively evaluated, both with cephalometry and anthropometry. Ten females and nine males were placed collectively into three age groups: 6 years, 10 years, and 16 to 17 years. Cephalometric measurements disclosed a short anterior cranial base (S-N), a normal length of the vertical maxilla (SE-PNS), a decreased horizontal maxilla (PNS-A, Co-A), a recessed orbitale (SNO), and a high-normal mandibular length (Co-Gn). Anthropometry revealed a large nasofrontal angle, acute nasal inclination and nasolabial angle, decreased nasal prominence (Sn-Prn), a decreased columellar length (C-Sn), and a normal vertical nose (N-Sn) and upper lip (Sn-Sto) length.

Topics: Adolescent; Anthropometry; Bone Diseases, Developmental; Cephalometry; Child; Evaluation Studies as Topic; Female; Humans; Male; Maxilla; Maxillofacial Development; Nose; Photogrammetry; Retrospective Studies; Syndrome

Topics: Abnormalities, Multiple; Consanguinity; Diaphragm; Fingers; Humans; Infant; Nails, Malformed; Nose; Syndrome

We report a family with oligosymptomatic EEC syndrome. Whereas the mother had most symptoms of this syndrome, one son presented a minimal ectrodactyly and a highly arched palate and one daughter showed only a unilateral stiff thumb. The variability of this syndrome is discussed. The penetrance of this dominantly inherited disorder is judged to be reduced to about 78%.

Topics: Adult; Child; Cleft Palate; Ectodermal Dysplasia; Female; Fingers; Humans; Infant; Male; Nose; Syndrome; Thumb

Two new familial cases of Marshall syndrome are reported. The main features of this rare syndrome are outlined. Its possible relationship with Stickler syndrome is discussed.

Topics: Abnormalities, Multiple; Adult; Cataract; Female; Hearing Loss; Hearing Loss, Bilateral; Humans; Infant, Newborn; Male; Myopia; Nose; Pedigree; Syndrome

Previous work confirmed the abnormal potential difference between the undersurface of the inferior nasal turbinate and a reference electrode in cystic fibrosis, but the technique is difficult and the results show overlap between the cystic fibrosis and the control populations. In the present study the potential difference from the floor of the nose has therefore been assessed in normal subjects, as well as in adult patients with cystic fibrosis, bronchiectasis and Young's syndrome. Voltages existing along the floor of the nasal cavity were recorded. The mean potential difference was similar in controls (-18 (SD 5) mv) and in patients with bronchiectasis (-17 (6) mv) and Young's syndrome (-20 (6) mv). The potential difference in cystic fibrosis (-45 (8) mv) was significantly different from controls (p less than 0.002) and there was no overlap between the cystic fibrosis values and values obtained in normal and diseased controls. This simple technique therefore discriminates well between patients with cystic fibrosis and other populations, raising the possibility of its use to assist in diagnosis.

Topics: Adolescent; Adult; Amyotrophic Lateral Sclerosis; Bronchiectasis; Cystic Fibrosis; Female; Humans; Male; Membrane Potentials; Nose; Platybasia; Syndrome

A holoprosencephalic child was born to a mother with a single central maxillary incisor. The infant had a median cleft lip, a flat nose with a single nostril, hypotelorism, and normal chromosomes. The head was brachycephalic and small, and computed tomography (CT) of the brain showed semilobar holoprosencephaly. The mother had mild hypotelorism but no anosmia, and her brain CT was normal. She was of normal intelligence and stature. Other relatives did not have single central maxillary incisors, hypotelorism, or oral clefts. Whether the mother's anomaly was a new mutation or had been inherited is unknown. We show the significance of a single central maxillary incisor as an indicator or potential holoprosencephaly in the next generation, even if other relatives are apparently normal.

Topics: Abnormalities, Multiple; Brain; Cerebral Ventricles; Cleft Lip; Female; Humans; Incisor; Infant; Microcephaly; Nose; Pedigree; Syndrome

Craniofrontonasal dysplasia, a distinct malformation syndrome, is characterized by varying degrees of frontonasal dysplasia, craniosynostosis, and variable extracranial abnormalities--in particular, brittle nails with prominent longitudinal grooves or splitting. There is marked female preponderance and variable expressivity not only between males and females but also between females. However, mode of inheritance is still unclear. We describe a large Arab kindred with 16 individuals (9 males, 7 females) in 4 generations having an apparently new autosomal dominant syndrome with features of craniofrontonasal dysplasia but with normal or slightly broad nasal tip and without evidence of craniosynostosis or nail abnormalities. These cases were segregating in 5 sibships and include male to male transmission with full expression in males and females. Chromosomes of the proposita and her father were normal. Aarskog syndrome has been also considered in the differential diagnosis and was excluded.

Topics: Abnormalities, Multiple; Adult; Child; Child, Preschool; Female; Frontal Sinus; Genes, Dominant; Humans; Infant; Male; Middle Aged; Nose; Pedigree; Skull; Syndrome

Topics: Abnormalities, Multiple; Child; Epiphyses; Female; Fingers; Hair; Hip Joint; Humans; Nose; Radiography; Syndrome

Topics: Adolescent; Adult; Cephalometry; Child; Face; Female; Humans; Longitudinal Studies; Male; Malocclusion; Maxilla; Maxillofacial Development; Nose; Syndrome

The tricho-rhino-phalangeal syndrome (TRPS) is a rare congenital disorder, characterized by (1) a peculiar and somewhat pear-shaped nose, (2) sparse and brittle scalp hair, and (3) radiographic evidence of cone-shaped epiphyses of the hands. On the basis of clinical, radiographic and genetic criteria, two subtypes (type I and II) are discerned. We describe an intermediate "hybrid" variant of the TRPS in a patient with clinical and radiographic features of TRPS type I, but with a clearly abnormal karyotype, consistent with TRPS type II. The radiographic findings of the syndrome are reviewed, with particular emphasis on the cone-shaped epiphyses in the hands, the changes in the coxo-femoral joints and the atypical appearance of the pubic symphysis.

Topics: Abnormalities, Multiple; Adult; Exostoses, Multiple Hereditary; Female; Fingers; Hair; Humans; Nose; Syndrome

Topics: Adolescent; Child; Craniosynostoses; Diagnosis, Differential; Facial Bones; Female; Humans; Infant; Limb Deformities, Congenital; Male; Nose; Skull; Syndrome; Thorax

Chromosomal findings in the majority of cases of TRP II (or Langer-Giedion) syndrome and in some cases of TRP I syndrome lead to the conclusion that the former is due to a deletion extending from 8q24.11 to 8q24.13 whereas the latter is caused by an even smaller deleted segment, namely 8q24.12. A case of tricho-rhino-phalangeal syndrome type I with a mosaic deletion of band 8q24.12 is described.

Topics: Abnormalities, Multiple; Bone and Bones; Child; Chromosome Deletion; Chromosomes, Human, Pair 8; Hair; Humans; Male; Mosaicism; Nose; Syndrome

We report three cases of tricho-rhino-phalangeal syndrome (TRPS) type I in a Belgian family. They presented typical characteristics such as a pear-shaped nose, and short, deformed fingers with cone-shaped epiphyses of some middle phalanges of the hands. Hair growth was practically normal in our patients, except for some narrowing of the lateral part of the eyebrows. Perthes-like hip dysplasia was documented in two of our cases. The proband presented at the age of 31 with Kienböch's disease of the right wrist. Blood and urine analysis showed no clear anomalies. In this patient, echography revealed a renal cyst containing a stone. The relationship of these findings to TRPS is discussed.

Topics: Adult; Belgium; Epiphyses; Female; Hair Diseases; Humans; Legg-Calve-Perthes Disease; Nose; Osteoarthritis; Osteochondritis; Syndrome

A Jewish family is reported in which the proband and her father had congenital hearing loss and unusual facies consisting of facial asymmetry, temporal alopecia with frontal bossing, a broad nasal root and small nasal alae. In addition, both were born with a short frenulum of the tongue. We believe these findings represent a new autosomal dominant deafness syndrome with distinct craniofacial features.

Topics: Abnormalities, Multiple; Adult; Alopecia; Child, Preschool; Facial Asymmetry; Female; Genes, Dominant; Hearing Loss, Sensorineural; Humans; Male; Nose; Syndrome; Tongue

We report on a second patient with Johanson-Blizzard syndrome with full autopsy. The findings are similar to those of the one other available case, but gross or fine CNS maldevelopment was not present; although small by weight, the brain showed no cytoarchitectural disturbance. Normal intellectual development does occur in this syndrome and may relate to the variable effects of the deleterious gene on the developing CNS.

Topics: Abnormalities, Multiple; Brain; Female; Humans; Infant; Malabsorption Syndromes; Nose; Pancreas; Scalp; Syndrome

A case of oculodentodigital dysplasia in a 35-year-old man is reported. The diagnosis was based on the characteristic facies, microcornea, and dental dysplasia. Digital findings, although consistent with previous reports, were somewhat atypical, with almost complete aplasia of the right foot present. Although the patient appeared to be mentally retarded, it is not clear whether this can be considered a component of the syndrome or merely a coincidental finding.

Topics: Adult; Dental Enamel Hypoplasia; Fingers; Humans; Intellectual Disability; Male; Nose; Syndrome; Toes

Nasal respiratory function and its relationship to growth development of the craniofacial structure has been a subject of interest and controversy for over 100 years. The otolaryngologist as the primary physician with responsibility of managing the upper respiratory tract is obviously most intimately involved with diagnosis and treatment of upper respiratory tract problems. To further evaluate the evidence regarding causes of craniofacial growth, a study was done involving pretreatment orthodontic subjects and their manifestation of classic signs of adenoid facies ("long-face syndrome"). Randomly selected were 106 subjects, ranging in age from 6 to 13 years, for evaluation of the facial features and medical history associated with long-face syndrome. No conclusive proof was found that nasal respiratory obstruction alters facial growth development. Studies of the nasal respiratory function need to be done utilizing clear definitions of respiratory mode and objective; reproducible techniques of measuring respiratory modes must be employed. Highly selected orthodontic patients can benefit from adenoidectomy and/or tonsillectomy.

Topics: Adolescent; Airway Obstruction; Cephalometry; Child; Facial Bones; Female; Humans; Male; Malocclusion; Maxillofacial Development; Mouth Breathing; Nose; Random Allocation; Respiration; Syndrome

Topics: Abnormalities, Multiple; Adolescent; Female; Hair; Hand Deformities, Congenital; Humans; Nose; Syndrome

We report on a patient with the Tricho-Rhino-Phalangeal syndrome (TRPS) with normal mentation, without exostoses and with a partial microdeletion of 8q23. Although she had the phenotypic characteristics of TRPS Type I, karyotypic analysis demonstrated the 8q-microdeletion usually associated with TRPS Type II, in which exostoses are present. Our patient represents the second reported instance of this phenotypic chromosomal association and provides further evidence for homogeneity of the TRPS.

Topics: Abnormalities, Multiple; Adult; Chromosome Deletion; Chromosomes, Human, 6-12 and X; Exostoses; Female; Hair; Hand Deformities, Congenital; Humans; Nose; Syndrome

Topics: Abnormalities, Multiple; Clinical Enzyme Tests; Exocrine Pancreatic Insufficiency; Female; Hair; Humans; Japan; Male; Nose; Scalp; Syndrome; Tooth Abnormalities

In 48 patients with maxillonasal dysplasia the retruded nasal base was corrected with onlay cancellous bone grafts after subperiosteal dissection using an oral vestibular approach. Support for the nasal dorsum was achieved in 39 patients with an L-shaped bone graft from the iliac crest introduced through the same approach. The advancement of the nose was found stable on lateral cephalograms; i.e., resorption did not occur. However, the grafts showed considerable remodeling. Half the patients found the stiffness of the nose to be disturbing. In nine patients, the cartilaginous septum was used instead as a support for the nasal dorsum and tip. At operation, the entire cartilaginous septum was mobilized after subperichondrial dissection and rotated forward either pedicled at the nasal dorsum or completely released. Cartilage regenerated in the periochondrial pocket left behind the advanced septum. The anterior transfer of the nose was 6 to 10 mm. The use of septal advancement is preferred over bone implants in the correction of maxillonasal dysplasia in patients in whom the bony nasal dorsum is of adequate height because it results in a soft and flexible nose and the risk of traumatic fracture and resorption is eliminated. The technique has been used in adolescents with promising results.

Topics: Abnormalities, Multiple; Adolescent; Adult; Child; Face; Follow-Up Studies; Humans; Maxilla; Nasal Bone; Nasal Cavity; Nasal Septum; Nose; Rhinoplasty; Syndrome

Clinical and pathologic anatomic parameters were studied in 50 patients with maxillonasal dysplasia (Binder's syndrome). The skeletal deformity causing the flat and low-set nose was in typical patients a palpable depression in the anterior nasal floor (fossa prenasalis) and a localized maxillary hypoplasia in the alar base region. Class III malocclusion was found in 54 percent. In 6 percent of the patients a slope (sulcus prenasalis) was found instead of a fossa in the anterior nasal floor, and in one patient a rudimentary fossa was found. Concomitant malformations were noted in 18 percent, and a hereditary connection was seen in 16 percent. The etiology is discussed in relation to the development of the premaxilla and the appearance of a secondary external trabecular network of bone in the canine region. An inhibition of the latter ossification center would explain the localized hypoplasia in the floor and walls of the piriform aperture in maxillonasal dysplasia.

Topics: Abnormalities, Multiple; Adolescent; Adult; Child; Facial Bones; Female; Humans; Male; Maxilla; Nasal Bone; Nose; Palpation; Rhinoplasty; Syndrome

A new finding in the trichorhinophalangeal syndrome, flattening of the distal femoral epiphyses, is described in seven patients. Measurement of the ratio of the height of the distal femoral epiphysis versus both the width of the distal femoral metaphysis and the width of the distal femoral epiphysis and comparison to normal standards confirmed the subjectively observed flattening of the distal femoral epiphysis in these patients, further suggesting that the disease is a generalized process rather than a local disorder.

Topics: Child; Child, Preschool; Epiphyses; Femur; Fingers; Hair; Humans; Nose; Radiography; Syndrome

The present study shows the occurrence of the trichorhinophalangeal syndrome type I in a Swedish family. Five members were affected and they were examined clinically and radiologically, and four of them were also cytogenetically examined. Three of them had dysplasia of the hip joints reminiscent of the Legg-Calvé-Perthes disease. Functional hand problems were common. High resolution G banding displayed normal chromosome complements. The inheritance was autosomal dominant. The data presented stress the importance of identifying the syndrome early in life so as to prevent the development of impaired hand and hip function.

Topics: Abnormalities, Multiple; Female; Fingers; Hip Dislocation, Congenital; Humans; Male; Nose; Pedigree; Syndrome

Tricho-rhino-phalangeal syndrome is probably not so much uncommon as unrecognised. Its significance to orthopaedic surgeons, apart from the functionally unimportant minor finger deformities, lies in its mimicking both Perthes' disease and diaphyseal aclasis. The 14 cases analysed in this paper illustrate the wide range of clinical variation.

Topics: Abnormalities, Multiple; Adolescent; Adult; Bone Diseases, Developmental; Child; Child, Preschool; Diagnosis, Differential; Female; Fingers; Hair; Hand; Hand Deformities, Congenital; Hip; Humans; Infant; Legg-Calve-Perthes Disease; Male; Middle Aged; Nose; Radiography; Syndrome

Topics: Abnormalities, Multiple; Adult; Diseases in Twins; Ear; Eye Abnormalities; Female; Genes, Recessive; Humans; Infant, Newborn; Kidney; Nose; Pregnancy; Syndrome; Terminology as Topic; Twins, Monozygotic

Three new cases of oculodentodigital (ODD) syndrome are reported. The clinical features are discussed and the development of the characteristic facial appearance is illustrated. Conductive deafness is reported in one of our cases and has been reported in six previous cases. It is suggested that it is a feature of the syndrome which is amenable to treatment.

Topics: Abnormalities, Multiple; Dental Enamel Hypoplasia; Eye Abnormalities; Female; Fingers; Humans; Male; Nose; Syndrome

Two persons within the same family were discovered to be trisomic for the segment 7qter. However, several features differed from those described in other patients with this syndrome, for example, normal birth weight and neck size, cleft palate, and beaked nose. In addition to the phenotypic variation, there were three independently segregating autosomal translocations in the pedigree: t(1;7)(q43;q32), t(1;6) (p22.3;q14.1), and t(3;10)(q26.1;p11.21). This is a finding that, to our knowledge, has not been previously reported.

Topics: Adult; Birth Weight; Chromosome Banding; Chromosomes, Human, 1-3; Chromosomes, Human, 6-12 and X; Cleft Palate; Female; Humans; Infant, Newborn; Intellectual Disability; Karyotyping; Male; Nose; Pedigree; Phenotype; Syndrome; Translocation, Genetic; Trisomy

We have described a family in which the father and three children appear to have an absence of nasal cilia, resulting in inadequate nasociliary clearance, stasis of nasal secretions, and secondary bacterial contamination. This condition should be considered in chronic rhinitis of obscure etiology.

Topics: Adult; Bacterial Infections; Child; Child, Preschool; Cilia; Female; Humans; Infant; Male; Nasal Mucosa; Nose; Pedigree; Rhinitis; Syndrome

A two-year-old boy and his mother with the Tricho-Rhino-Phalangeal syndrome type I were studied. The mother showed the complete triad of the syndrome with fine, sparse, slow-growing hair, pear-shaped nose and abnormal fingers. Cone-shaped epiphyses of the phalanges of the hands and shortening of the mesophalanges and of the first and fifth metacarpals were observed radiographically. With the exception of the extreme shortening of several phalanges and metacarpals the above mentioned symptoms were also present in the son.

Topics: Abnormalities, Multiple; Adult; Child, Preschool; Female; Fingers; Growth Disorders; Hair; Humans; Male; Nose; Radiography; Syndrome

A family is reported with an autosomal dominant inherited syndrome presenting some of the typical features of the tricho-rhino-phalangeal syndrome type II (TRP II) or Langer-Giedion syndrome. The critical region for the expression of the syndrome seems to be at band 8q24.1. In the affected members of the family reported here, anomaly of chromosome 8 was noted, involving however the proximal part of the 8 long arm, which was interpreted as a paracentric inversion. Whether the anomaly is causally or only casually related to the syndrome is a matter of discussion.

Topics: Adolescent; Adult; Chromosome Banding; Chromosome Inversion; Chromosomes, Human, 6-12 and X; Female; Fingers; Genes, Dominant; Hair; Humans; Lymphocytes; Male; Middle Aged; Mitral Valve Prolapse; Nose; Syndrome

Topics: Abnormalities, Multiple; Epiphyses; Fingers; Hair; Humans; Infant, Newborn; Male; Nose; Radiography; Syndrome; Toes

Several investigators have attempted to correlate chromosomal abnormalities with Cornelia de Lange Syndrome (CLS), but none of them have been conclusive. The homozygous inversion of 9qh found in the present case has not been found previously. It remains to be clarified whether the presence of this finding in CLS was simply a coincidence or whether homozygosity for such inversions may result in CLS.

Topics: Abnormalities, Multiple; Bone and Bones; Chromosome Banding; Chromosome Inversion; Chromosomes, Human, 6-12 and X; Humans; Infant, Low Birth Weight; Infant, Newborn; Lip; Male; Nose; Syndrome

We report a boy with a trichorhinophalangeal syndrome (TRP syndrome), severe mental retardation, and transient megacephaly, whose karyotype showed complex, apparently balanced, translocations with breakpoints in bands 3q13, 8p22, 8q13, 11p12, and 11q21. The fact that cases presenting with phenotypes corresponding to the TRP II syndrome and deletions of the long arm of chromosome 8 have been recently reported prompted us to report this case to help in the clarification of the possible relation between 8q chromosomal mutation and the aetiology of TRP syndromes.

Topics: Abnormalities, Multiple; Chromosome Aberrations; Chromosome Disorders; Chromosomes, Human, 1-3; Chromosomes, Human, 21-22 and Y; Chromosomes, Human, 6-12 and X; Humans; Intellectual Disability; Karyotyping; Male; Nose; Syndrome; Translocation, Genetic

Topics: Adolescent; Adult; Child; Female; Fingers; Hair; Humans; Male; Nose; Pedigree; Syndrome

A solitary case of Trichorhinophalangeal syndrome type I is described. Scanning electron microscopic examination revealed alterations of the cuticular pattern and hair shaft structure. These alterations have not been previously described and differ from those seen in other syndromes belonging to the group of the ectodermal dysplasias e.g. the Trichoonytic Hidrotic ectodermal dysplasia, autosomal recessive Anhidrotic ectodermal dysplasia and X-linked Anhidrotic ectodermal dysplasia.

Topics: Adult; Alopecia; Female; Fingers; Hair; Humans; Hypotrichosis; Nose; Syndrome

Topics: Abnormalities, Multiple; Adult; Carpal Bones; Child; Female; Hair; Hip Joint; Humans; Infant; Male; Nose; Osteochondritis; Radiography; Syndrome

Topics: Abnormalities, Multiple; Cleft Palate; Ear, External; Hearing Loss, Sensorineural; Humans; Infant; Male; Mouth Abnormalities; Nose; Seizures; Syndrome

Topics: Arthritis, Juvenile; Child; Diagnostic Errors; Female; Fingers; Hair; Humans; Nose; Syndrome

A family exhibiting the classical features of the tricho-rhino-phalangeal syndrome is presented.

Topics: Adolescent; Epiphyses; Female; Fingers; Hair Diseases; Humans; Male; Nose; Pedigree; Syndrome

Of four adult patients with the trichorhinophalangeal syndrome, 3 were from one family, one had associated major femoral trochlear dysplasia and bilateral mandibular condyle dysplasia, and another a bilateral coxa plana.

Topics: Adult; Bone Diseases, Developmental; Female; Fingers; Hair; Humans; Male; Middle Aged; Nose; Radiography; Syndrome

Topics: Craniosynostoses; Fingers; Frontal Sinus; Humans; Infant; Male; Nose; Sex Factors; Syndrome; Terminology as Topic

Topics: Airway Obstruction; Humans; Mouth Breathing; Nose; Pulmonary Ventilation; Respiration; Syndrome

Topics: Adolescent; Airway Resistance; Child; Female; Humans; Male; Mouth Breathing; Nose; Oropharynx; Physical Therapy Modalities; Respiration; Syndrome

Topics: Adolescent; Alopecia; Epiphyses; Fingers; Humans; Hypotrichosis; Male; Nose; Pedigree; Syndrome

Topics: Abnormalities, Multiple; Child, Preschool; Dysgammaglobulinemia; Female; Fingers; Hair; Humans; IgA Deficiency; IgG Deficiency; Infant; Nose; Syndrome

Four cases of frontonasal dysplasia are reported in two boys and two girls. Clinical diagnosis was made at 16 months in one case and sooner in 3 cases (1 month-3 1/2 months) in presence of following features: severe hypertelorism (4/4), paramedian lip and palate cleft (3/4), nose root broadering (4/4), bifid or cleft nose tip (3/4), window's peak (3/4) mediofrontal swelling (4/4), cranium bifidum occultum (2/4). Many abnormalities were associated: conduction deafness (1/4), goldenhar syndrome (1/4), GH deficiency (1/4), etc... In three cases when cerebral investigation was possible, it was pointed out: corpus callosum agenesis (3/3), hydrocephalus (3/3), Dandy-Walker cyst (2/3). Caryotype is normal in whole cases which are sporadic. Two children are dead. The two alive remaining have severe mental impairment.

Topics: Abnormalities, Multiple; Child; Child, Preschool; Cleft Palate; Female; Forehead; Humans; Jaw Abnormalities; Lip; Male; Nose; Syndrome

A newborn female with intrauterine growth retardation, bilateral cleft lip and palate, absent external nares and eyelids, low set ears, short contracted limbs, webbed digits, intestinal malrotation, and unilateral renal agenesis is reported. These multiple malformations are considered part of the Neu-Laxova syndrome.

Topics: Abnormalities, Multiple; Cleft Lip; Cleft Palate; Eyelids; Female; Fetal Growth Retardation; Humans; Intestines; Kidney; Limb Deformities, Congenital; Nose; Pregnancy; Syndrome

Reexamination with high resolution banding of the first ever published case of Langer-Giedion syndrome with 8q deletion as well as chromosome examination of a second case of this syndrome with different high resolution methods, confirmed our previous assumption of a terminal 8q involvement in the causation of TRP II syndrome.

Topics: Abnormalities, Multiple; Child, Preschool; Chromosome Banding; Chromosome Deletion; Chromosomes, Human, 6-12 and X; Fingers; Hair; Humans; Male; Nose; Syndrome

In the present paper an intercalary deletion of band 8q23 is reported in another patient with Langer-Giedion syndrome. These data confirm that the deletion in 8q responsible for this malformation syndrome is located at band 8q23.

Topics: Abnormalities, Multiple; Child, Preschool; Chromosome Deletion; Chromosomes, Human, 6-12 and X; Female; Fingers; Hair; Humans; Nose; Syndrome

Topics: Abnormalities, Multiple; Chromosome Aberrations; Chromosome Disorders; Chromosomes, Human, 13-15; Genitalia, Male; Humans; Infant; Intellectual Disability; Limb Deformities, Congenital; Male; Microcephaly; Nose; Syndactyly; Syndrome; Trisomy

Topics: Adult; Eye Abnormalities; Face; Female; Hand Deformities, Congenital; Humans; Hypertelorism; Infant, Newborn; Intellectual Disability; Nose; Skull; Syndrome

Topics: Adult; Female; Humans; Nose; Postoperative Complications; Rhinoplasty; Shock, Septic; Staphylococcal Infections; Syndrome

Topics: Adult; Child; Deafness; Female; Genetic Variation; Humans; Male; Myopia; Nose; Syndrome; Terminology as Topic; Zygoma

We describe a 12-year-old girl with Langer-Giedion syndrome (tricho-rhino-phalangeal syndrome type II) who also had vertebral malformations. Chromosome analysis identified an interstitial del(8q): 46,XX,del(8)(pter leads to q22::q234 leads to qter) as a cause of this syndrome.

Topics: Abnormalities, Multiple; Bone and Bones; Child; Chromosome Aberrations; Chromosome Banding; Chromosome Deletion; Chromosome Disorders; Chromosomes, Human, 6-12 and X; Female; Fingers; Humans; Intellectual Disability; Karyotyping; Nose; Spine; Syndrome

Topics: Adolescent; Adult; Diagnosis, Differential; Female; Fingers; Genes, Dominant; Growth Disorders; Hair Diseases; Humans; Metatarsus; Nose; Syndrome

Topics: Adolescent; Female; Fingers; Hair; Humans; Nose; Radiography; Syndrome

Topics: Child; Epilepsy; Female; Genes, Recessive; Humans; Intellectual Disability; Male; Nose; Pedigree; Syndrome

This article reports on 14 cases of a trichorhinophalangeal syndrome in five successive generations. Besides the well-known characteristics of the TRPS the following symptoms observed in this family are new: Teething was considerably delayed, intelligence was reduced, and there were skin manifestations resembling eczema. Besides, struma colli and colitis ulcerosa were also observed. Subsequent observations have to clarify whether these symptoms are a facultative part of the TRPS pattern. The constant appearance of carriers of these characteristics during five generations points to dominant heredity.

Topics: Abnormalities, Multiple; Adolescent; Adult; Aged; Child; Colitis, Ulcerative; Eczema; Female; Fingers; Goiter; Hair; Heterozygote; Humans; Intellectual Disability; Male; Middle Aged; Nose; Pedigree; Radiography; Syndrome

Topics: Abnormalities, Multiple; Adolescent; Female; Fingers; Hair; Humans; Nose; Syndrome

The trichorhinophalangeal syndrome, first described by Giedon in 1966, is a condition characterized not only by skeletal, nasal, and phanerian anomalies, but by typical changes in craniofacial architecture : the vertical height of the face and cranium is increased, and there is broadening of the sagittal maxillomandibular width compensatory bilateral retroalveoli. According to Delaire, who analyzed the craniofacial architecture, the primary etiological feature of the characteristic craniofacial modifications observed in this syndrome is a reduction in size of the craniofacial basal structure.

Topics: Abnormalities, Multiple; Adolescent; Cephalometry; Child; Face; Fingers; Hair; Humans; Male; Nose; Skull; Syndrome; Toes

Topics: Adolescent; Adult; Aged; Child; Child, Preschool; Face; Female; Fingers; Hair; Humans; Male; Middle Aged; Nose; Pedigree; Syndrome; Tooth Abnormalities

Two cases, a father and daughter, with all the principal signs of tricho-rhino-phalangeal syndrome Type II are described, although nine previously reported cases were all sporadic. It is suggested that these patients have a genetic disorder with an autosomal dominant mode of inheritance. It may be reasonable to assume that a patient with relatively mild mental retardation, such as the father in the present report, could marry and have off-spring. Generalized aminoaciduria was found in the affected daughter.

Topics: Abnormalities, Multiple; Adult; Child; Exostoses, Multiple Hereditary; Female; Fingers; Hair; Humans; Intellectual Disability; Male; Nose; Pedigree; Radiography; Syndrome

Topics: Abnormalities, Multiple; Child, Preschool; Chromosome Deletion; Chromosomes, Human, 6-12 and X; Exostoses, Multiple Hereditary; Fingers; Hair; Humans; Male; Nose; Syndrome

Three cases of the Tricho-rhyno-phalangeal syndrome (TRF) are described. Two cases were in the same family with some affected membres (Camacho et al., 1978). The third case, of sporadic presentation, showed radiological signs of Perthes' disease. All cases presented the main clinic and radiologic alterations of the TRF syndrome: hypotrichia, pear-shaped nose and cone shaped epiphyses. Some of them presented other characteristic features such as: darwism, prominent nose, elonged philtrum, thin upper lip, baldness of the external 1/2 eyebrows, prominent ears of low implantation, shortening of some fingers (of metacarpals and metatarsal), onicodystrophy, etc. The differential diagnosis must be stablished with: a) congenital processes which present facial abnormalities, specially of the nose, b) congenital atrichias o hypotrichias associated to osteoarticular troubles of the growth and c) congenital syndromes with epiphyses in cone (peripheric dysostosis). Finally, we find, by scanning electron microscope studies, an increase of the cuticular cells in detachment, an inespecific sign that denotes a special lability of these patients' hair to the action of the outside agents on it.

Topics: Adolescent; Adult; Alopecia; Bone Diseases, Developmental; Child, Preschool; Diagnosis, Differential; Epiphyses; Female; Humans; Hypotrichosis; Male; Nose; Pedigree; Syndrome

Binder's syndrome consists of nasomaxillary hypoplasia with a characteristic nasal deformity. Occlusion may be normal or class III. The cephalometric appearances are almost characteristic. The Le Fort II osteotomy is ideal for correcting the problem, though initial results were not entirely satisfactory because of incomplete correction of the nasal deformity. Over the past few years the periosteum of the floor and lateral walls of the pyriform cavity has been widely dissected to obtain adequate nasal advancement. The alar base, nostril sill, and nasal spine area have been selectively augmented with carved bone or cartilage grafts. Lengthening of the columella has been achieved by advancement of bilateral nostril sill flaps into the columella. Advancement of the maxilla with a previously normal occlusion may require orthodontic treatment, either preoperatively or postoperatively, to ensure normal occlusion. The authors have treated 26 patients with this condition over the last ten years.

Topics: Humans; Maxilla; Methods; Nose; Syndrome

Five unrelated patients with a previously unrecognized mental retardation malformation syndrome are presented. Clinical features common to them include moderate mental retardation, postnatal dwarfism, susceptibility to infection in infancy, and peculiar craniofacial dysmorphia characterized by long palpebral fissures, high-arched and abnormal eyebrows, heavy and long eyelashes, large ears, short nasal septum and/or depressed nasal tip, and cleft palate. Other anomalies are stubby fingers, deformed vertebra and other bone and joint anomalies, and abnormal dermatoglyphics. The absence of familial occurrence and of consanguinity suggests some environmental causation, but the possibility of an autosomal dominant or X-linked mode of inheritance remains. Based upon our five patients and other five of Niikawa et al, we propose this syndrome as a new disease entity.

Topics: Abnormalities, Multiple; Adolescent; Bone and Bones; Child; Child, Preschool; Dwarfism; Ear, External; Eyelids; Face; Female; Humans; Infant; Intellectual Disability; Male; Nose; Syndrome

Topics: Abnormalities, Multiple; Female; Humans; Hypoproteinemia; Infant; Infant, Newborn; Male; Nose; Situs Inversus; Syndrome

Topics: Adolescent; Adult; Cephalometry; Child; Child, Preschool; Female; Humans; Male; Malocclusion; Maxilla; Maxillofacial Development; Nose; Syndrome

Topics: Abnormalities, Multiple; Adolescent; Adult; Female; Humans; Nose; Syndactyly; Syndrome; Thumb; Tibia; Toes

Topics: Abnormalities, Multiple; Cleft Lip; Face; Humans; Nose; Orbit; Syndrome

Topics: Abnormalities, Multiple; Adolescent; Craniofacial Dysostosis; Diagnosis, Differential; Female; Humans; Male; Maxilla; Maxillofacial Development; Nose; Syndrome

Four familial cases of trichorhinophalangeal syndrome have been observed. These four and five other possible cases in the same family confirm the autosomal dominant inheritance and show a wide clinical expressivity. The radiological study of case 1 also confirms the existence of a characteristic generalized bone dysplasia. This syndrome bears in itself short stature of unknown etiology with normal growth hormone production. The skeletal deformities doe not affect the physical activity, and life span is not reduced.

Topics: Adult; Aged; Bone Diseases, Developmental; Child; Female; Fingers; Hair; Humans; Middle Aged; Nose; Pedigree; Syndrome; Zinc

Topics: Abnormalities, Multiple; Ear, External; Extremities; Face; Genitalia; Humans; Infant, Newborn; Kidney; Male; Micrognathism; Nose; Syndrome

Genetic disorders involving the ear, nose and throat can be looked at in essentially the same way that one would view other genetic problems. It is important to differentiate genetic disorders from those due to environmental influences. This may be difficult on clinical grounds, since similar clinical features may be produced by different environmental factors or by different genes or groups of genes. When the cause of the disorder can be established, the risks involved in a family having further offspring usually can be determined reasonably readily. In the uncharacterized situations, empiric risk figures are employed. Abnormalities of genetic origin fall into one of three main groupings: chromosomal abnormalities, single gene mutations or polygenic inheritance. These situations are discussed and examples are given.

Topics: Chromosome Aberrations; Chromosome Disorders; Deafness; Ear; Environment; Genetics, Medical; Humans; Mutation; Nose; Otorhinolaryngologic Diseases; Phenotype; Prenatal Diagnosis; Syndrome

An inbred pedigree is described in which three members were affected with FND (Frontonasal Dysplasia). Two of these individuals were products of a consanguineous mating with an inbreeding coefficient of F = 0.0391. The third affected individual (propositus), was born to a marriage in which the coefficient of inbreeding was 0.0742. The mother of the propositus, whose inbreeding coefficient was 0.0625, had borderline hypertelorism and a broad nose. Several other members of the pedigree who had hypertelorism were products of consanguineous matings. The presence of consanguinity in all individuals affected with a variety of manifestations of FND suggests a genetic mechanism for this malformation.

Topics: Consanguinity; Craniofacial Dysostosis; Face; Female; Humans; Hypertelorism; Infant, Newborn; Male; Nose; Pedigree; Scalp; Syndrome

The tricho-rhino-phalangeal syndrome is a rare anomaly characterized by typical cranio-facial dysmorphic signs and anomalies of hair and phalanges. Frequently associated are Perthes-like hip changes, low birth weight and short stature. Autosomal-dominant inheritance is prevalent.

Topics: Abnormalities, Multiple; Adult; Aged; Birth Weight; Child; Dwarfism; Female; Fingers; Hair; Humans; Male; Nose; Syndrome

The tricho-rhino-phalangeal syndrome was described in 1966 by Giedion. It is a hereditary disease with a dominant autosomic transmission. The authors describe a family with 7 cases, 4 of which were thoroughly studied. No chromosomic or biochemical error is known. However, x-rays of a young man in this family led us to classify this anomaly among the minor epiphyseal dysplasias related to the peripheral dysostosis of Braislford and clearly distinct Thieman's disease acquired by manual labor.

Topics: Abnormalities, Multiple; Adolescent; Adult; Epiphyses; Female; Finger Joint; Fingers; Hair; Hip Dislocation, Congenital; Humans; Male; Nose; Osteochondritis; Pedigree; Syndrome

A 2.5 year-old boy is described with a typical tricho-rhino-phalangeal dysplasia type II (Langer-Giedion syndrome). The multiple exostoses appeared before the age of 2 years.

Topics: Abnormalities, Multiple; Child, Preschool; Face; Growth Disorders; Humans; Male; Nose; Psychomotor Disorders; Syndrome

Topics: Abnormalities, Multiple; Adult; Cerebral Aqueduct; Fingers; Hair; Humans; Intellectual Disability; Male; Nose; Syndrome

A case is reported of a baby born with congenital abnormalities due to maternal ingestion of warfarin during pregnancy. Warfarin is known to be teratogenic, producing characteristic abnormalities, namely a hypoplastic nose, stippled epiphyses, and skeletal abnormalities. A variety of ocular abnormalities have been reported. Ophthalmologists should seek a history of maternal warfarin ingestion when seeing a baby with congenital ocular abnormalities. They should also be aware of the possible teratogenic effects when considering warfarin therapy for a woman of childbearing age.

Topics: Abnormalities, Drug-Induced; Female; Humans; Infant, Newborn; Male; Nose; Pregnancy; Syndrome; Warfarin

Topics: Anticoagulants; Chondrodysplasia Punctata; Coumarins; Female; Humans; Nose; Pregnancy; Pregnancy Complications, Hematologic; Syndrome

Topics: Abnormalities, Multiple; Ear, External; Face; Female; Humans; Infant, Newborn; Kidney; Male; Nose; Syndrome

Anomalies of the nose, larynx and oral cavity are described in two patients with cryptophthalmos. A teratogen acting at the time of lid fold formation is probably responsible for the ocular and systemic involvement which are primarily ectodermal defects with some mesodermal involvement.

Topics: Abnormalities, Multiple; Child, Preschool; Eye Abnormalities; Female; Humans; Infant; Larynx; Mouth Abnormalities; Nose; Syndrome; Tongue

A 14-month-old female with the Coffin-Siris syndrome is described. Typical features included underweight at birth, growth retardation, microcephaly, profound mental retardation, severe hypotonia with lax joints, feeding difficulties and frequent respiratory tract infections; sparce scalp hair, small nose, epicanthic folds, a prominent philtrum and full lips; a congenital heart defect; hypoplasia or aplasia of the distal phalanges of digits 2--5 and the corresponding nails, especially of the fifth fingers and toes, and aplasia of the middle phalanges of the little fingers and the second and fifth toes; severe delay in bone maturation. The proposita also showed hypoplasia of the lateral portions of both clavicles. Inheritance of the Coffin-Siris syndrome is possibly autosomal recessive.

Topics: Abnormalities, Multiple; Cardiomegaly; Face; Female; Fingers; Genes, Recessive; Growth Disorders; Hair; Humans; Infant; Infant, Low Birth Weight; Infant, Newborn; Intellectual Disability; Lip; Microcephaly; Nails, Malformed; Nose; Radiography; Respiratory Tract Infections; Syndrome; Toes

Topics: Child; Ear, External; Femur Head Necrosis; Fingers; Hip; Humans; Legg-Calve-Perthes Disease; Male; Nose; Syndrome

A prominent feature of the trichorhinophalangeal syndrome is a very characteristic facies. This study quantitates differences in craniofacial skeleton between affected and unaffected members of the same kindred. Standard scores for various measurements taken from lateral cephalometric radiographs were compared for statistical significance, and these were further correlated with similar data calculated from length measurements of the middle phalanx of the second digit. The affected group had a shortened posterior face height (p less than 0.01) associated with a short mandibular ramus (p less than 0.01) as well as a reduced and superiorly deflected posterior cranial base (p less than 0.01). These craniofacial changes result in a steep inclination of the lower border of the mandible (p less than 0.01) and suggest disturbances in the epiphyseal growth sites of the skull as demonstrated by a high degree of correlation between the dysplasia of the cranial base, shortening of the posterior portion of the face, and shortening of the middle phalanx of the second digit.

Topics: Adolescent; Adult; Cephalometry; Child; Face; Facial Bones; Female; Fingers; Hair; Humans; Male; Mandible; Maxilla; Nose; Skin Diseases; Skull; Syndrome

The authors found in 53.5% of the cases of Binder's Syndrome, where a radiological work up had been carried out on the cervical spine and the spino-cervical joint, malformations of varying importance in these related structures. This lesional association had not as yet been pointed out. After pathological groupings and an analytical study of the anomalies encountered, the question of a common inducer factor is raised, or at least a factor contemporary to the two dysplasias, maxillo-nasal and vertebral. In practical terms, it would seem vital that all individuals with Binder's syndrome have a radiological examination of the cervical spine and the spino-cervical joint. In those subjects presenting with malformations and in particular, complex corporeal dysplasias, the authors strongly insist on the necessity of regular follow up in order to make an early diagnosis of eventual neurological repercussion.

Topics: Abnormalities, Multiple; Cervical Vertebrae; Craniofacial Dysostosis; Facial Bones; Humans; Maxilla; Nose; Radiography; Syndrome

Topics: Abnormalities, Multiple; Child; Exostoses, Multiple Hereditary; Hand Deformities, Congenital; Humans; Hypotrichosis; Intellectual Disability; Male; Nose; Syndrome

Maxillo-nasal dysostosis is not uncommon as we have noted 34 new cases in eight years. The most characteristic anomalies, well described by Binder, are nasal hypoplasia both of bone and cartilage with agenesis of the nasal spine, as well as a characteristic rearrangement of the naso-labial muscles. On first seeing the patient the disease is generally recognized by the very typical aspect of the nose. There very often exists however other dental, mandibular and cervical spine anomolies. It is indispensable to look for these anomalies in the work up of patients with this malformation syndrome "the naso-maxillo-vertebral syndrome", in order to better understand the disease and better treat the patients.

Topics: Abnormalities, Multiple; Adolescent; Adult; Cephalometry; Cervical Vertebrae; Child; Craniofacial Dysostosis; Diagnosis, Differential; Exostoses, Multiple Hereditary; Facial Bones; Female; Humans; Male; Malocclusion, Angle Class III; Maxilla; Nose; Orofaciodigital Syndromes; Radiography; Syndrome; Tooth Abnormalities

Eleven patients with Binder's syndrome (nasomaxillary hypoplasia) have been treated by the Toronto Craniofacial Team from 1972 to 1977. The treatment has consisted of onlay bone and cartilage grafts to the nose and perialar region for young children, or when the occlusion is normal. However, cases with severe malocclusion were treated by a Le Fort I and/or Le Fort II osteotomy when the children were older. When the malocclusion was less severe, interceptive orthodontics have been useful. The nose can be significantly lengthened and enlarged through a frontal craniotomy incision connected with an upper buccal sulcus incision, without any incision on the face.

Topics: Adolescent; Adult; Age Factors; Cartilage; Cephalometry; Child; Child, Preschool; Dermatologic Surgical Procedures; Female; Humans; Ilium; Male; Malocclusion; Malocclusion, Angle Class III; Maxilla; Maxillofacial Development; Nose; Ribs; Surgery, Plastic; Syndrome; Transplantation, Autologous

Topics: Bone Diseases, Developmental; Eye Color; Genes, Dominant; Humans; Intellectual Disability; Nose; Syndrome

Topics: Adult; Foot Deformities, Congenital; Hair; Hand Deformities, Congenital; Hip Joint; Humans; Male; Nose; Syndrome

We report the case of a boy with the Johanson-Blizzard syndrome who died at the age of 8 years with complications of pancreatic exocrine insufficiency, and at autopsy was found to have a small thyroid filled with colloid, virtually complete replacement of the pancreas with adipose tissue, and a brain of normal size but with evidence of a cortical developmental defect consisting of abnormalities of gyral formation and of cortical neuronal organization. In addition the boy had postnatal growth failure, apparent severe mental retardation, congenital scalp defects and scalp hair patterning abnormalities, aplasia of the nasal alae, nasolacrimo-cutaneous fistulae, hypotonia, severe congenital sensorineural deafness, and small conical and widely spaced teeth. Evidence is accumulating that this syndrome is likely to be inherited as an autosomal recessive disorder. Our case represents the first report of autopsy findings in the syndrome.

Topics: Abnormalities, Multiple; Adipose Tissue; Child; Genes, Recessive; Humans; Hypothyroidism; Intellectual Disability; Malabsorption Syndromes; Male; Nose; Pancreas; Pancreatic Diseases; Syndrome

Topics: Child; Female; Fingers; Hair; Humans; Mitral Valve Prolapse; Nose; Syndrome; Toes

The major characteristics of tricho-rhino-phalangeal syndrome (TRPS) include shortened and deviated digits, a typical facies with a pear-shaped nose, a long philtrum and slow-growing, fine, sparse hair. Cone-shaped digital epiphyses are seen on x-ray. A few patients with TRPS are mentally retarded. Associated endocrine abnormalities have been reported. Autosomal dominant and recessive patterns of inheritance have been described with most cases showing a dominant mode of inheritance.

Topics: Adult; Epiphyses; Female; Fingers; Hair; Humans; Metacarpus; Metatarsus; Nose; Syndrome; Toes

Topics: Adolescent; Adult; Aged; Body Height; Child; Child, Preschool; Female; Fingers; Genetic Variation; Hair; Humans; Kyphosis; Male; Nose; Pedigree; Phenotype; Scoliosis; Syndrome

Usually, nasal polyposis in early childhood (children aged less than 5 years) is caused by cystic fibrosis of Kartagener's syndrome. In later age groups, recurrent sinus infections, allergy and ASA disease (asthma, aspirin intolerance and nasal polyps) have to be taken into consideration. Four cases of early childhood polyposis are reported which fit into none of these etiological groups. This newly defined Woakes' syndrome comprises recurrent nasal polyposis with broadening of the nose, frontal sinus aplasia, bronchiectasis, and dyscrinia (production of highly viscous mucus). The disease seems to be hereditary. The possible origins of the disease are discussed.

Topics: Bronchiectasis; Child; Child, Preschool; Humans; Infant; Infant, Newborn; Nasal Polyps; Nose; Nose Neoplasms; Syndrome

Tricho-rhino-phalangeal syndrome, of genetic origin, consists invariably of an association of finger malformations, changes in the hair system and nasal malformations. There may also be other facial abnormalities. Plastic surgery may improve the appearance of these subjects.

Topics: Abnormalities, Multiple; Face; Fingers; Hair; Humans; Nose; Skin Diseases; Syndrome

This rare syndrome is characterized by short stature, sparse, fine scalp hair, a pear-shaped nose, long philtrum, normal intelligence, and cone-shaped epiphyses of the phalanges with deformities of the fingers.

Topics: Abnormalities, Multiple; Adolescent; Fingers; Hair; Humans; Male; Nose; Radiography; Syndrome; Toes

Topics: Abnormalities, Multiple; Adolescent; Adult; Child; Ectodermal Dysplasia; Female; Fingers; Hair; Humans; Nose; Pedigree; Syndrome; Toes

Acrodysostosis--a rare congenital malformation syndrome--is described in a 4 1/2 year old boy with peripheral dysostosis, nasal hypoplasia, mental retardation (PNM syndrome) and impaired hearing. The differential diagnosis includes pseudo (PH)--and pseudo-pseudohypoparathyroidism (PPH). The patient described here had severe peripheral dysostosis, typical of PNM as opposed to the above-mentioned conditions with only moderate peripheral dysostosis. Furthermore, there were no soft tissue calcifications and no intracranial calcification as can be seen in PH and PPH. Laboratory findings were normal.

Topics: Bone Diseases, Developmental; Child, Preschool; Hearing Disorders; Humans; Intellectual Disability; Male; Nose; Radiography; Syndrome

Topics: Abnormalities, Drug-Induced; Humans; Infant, Newborn; Male; Nose; Syndrome; Warfarin

Two Japanese siblings, a 2-year-old girl and a 7-month-old boy, had a syndrome of mental retardation, severe nasal hyp9plasia, peripheral dysostosis, and blue eyes. The mother showed nasal hyp9plasia of lesser degree and a mild form of peripheral dysostosis. This disorder bears a striking similarity to acrodysostosis, but in view of certain novel features its relationship to the disease is uncertain. The mode of inheritance could be either dominant with variable expressivity or autosomal recessive.

Topics: Bone Diseases, Developmental; Child, Preschool; Eye Color; Female; Humans; Infant; Intellectual Disability; Male; Nose; Pedigree; Phenotype; Syndrome

Topics: Alopecia; Child; Femur Head Necrosis; Fingers; Humans; Hypotrichosis; Male; Nose; Osteochondritis; Spondylolisthesis; Syndrome

A report is given on two sisters with arhinia, hypertelorism, Peters' anomaly and deformities of the maxilla. The lacrimal sacs in both patients were extirpated because of recurrent dacryoadenitis due to bilateral aplasia of the nasolacrimal ducts. One eye showing Peters' anomaly with microphthalmus was enucleated in the elder patient 12 years ago. Differential diagnosis includes frontonasal dysplasia and the different types of holoprosencephaly-syndromes. Probably this new malformation syndrome is a recessive inherited.

Topics: Abnormalities, Multiple; Adolescent; Corneal Opacity; Diagnosis, Differential; Female; Humans; Hypertelorism; Maxilla; Microphthalmos; Nose; Palate; Pedigree; Syndrome

An infant with aplastic alae nasi, imperforate anus, focal aplasia cutis over the fontanels, microcephaly, and mental retardation is presented as an example of the Johanson-Blizzard syndrome. The infant failed to thrive and had evidence of malabsorption. He died at 4 months of age. The occurrence of extensive consanguinity in his family and the occurrence of two other members of the kindred with a similar syndrome indicate that this disorder is transmitted by an autosomal recessive gene.

Topics: Abnormalities, Multiple; Anus, Imperforate; Chromosome Aberrations; Chromosome Disorders; Consanguinity; Genes, Recessive; Humans; Infant; Intellectual Disability; Male; Nose; Pedigree; Skin Abnormalities; Syndrome

Topics: Abnormalities, Multiple; Child; Electroencephalography; Female; Humans; Hyperventilation; Intellectual Disability; Macrostomia; Male; Nose; Osteoarthropathy, Secondary Hypertrophic; Syndrome

Topics: Adult; Child; Cleft Lip; Coloboma; Female; Genes, Dominant; Humans; Infant; Intellectual Disability; Male; Microcephaly; Nose; Pedigree; Syndrome

Topics: Deafness; Dwarfism; Hair; Humans; Infant; Infant, Newborn; Intellectual Disability; Malabsorption Syndromes; Male; Nose; Phenotype; Skin Abnormalities; Syndrome; Tooth Abnormalities

In a family 4 cases of the tricho-rhino-phalangeal sydrome are observed. The sparse hair and early baldness, the pearshaped nose, and the peripheral dysostosis are typical in the appearance of these patients. Congenital heart leasions and kidney disease, as in one of out patients, might be associated with the tricho-rhino-phalangeal syndrome.

Topics: Abnormalities, Multiple; Alopecia; Child; Child, Preschool; Fingers; Humans; Hypotrichosis; Male; Nose; Pedigree; Syndrome

Since 1872 more than 50 cases of the cryptophthalmos syndrome have been reported. In addition to other deformities, the typical anomalies of this syndrome are the missing palpebral fissure, eyebrow and the rudimentary eyeball. This paper deals with the possibilities of operative correction in a 13-year-old female. We are of the opinion that by means of plastic surgery, social integration into the community of the patient is possible.

Topics: Abnormalities, Multiple; Adolescent; Ear; Eye Abnormalities; Female; Humans; Maxilla; Nose; Ophthalmologic Surgical Procedures; Syndactyly; Syndrome

An 8-month-old infant boy with median facial cleft syndrome had eyelid coloboma, symblepharon, and a cytic mass in the left upper eyelid. The mass proved to be an ectatic cornea containing a large cystic lens. Maldevelopment of the entire anterior segment of the eye was also present, although the posterior globe was well formed. We postulate that an area of localized abnormal mesodermal differentiation and fusion at the 17- to 20-mm stage of development served as a common mechanism for all the defects noted.

Topics: Abnormalities, Multiple; Cleft Lip; Cleft Palate; Coloboma; Cornea; Craniofacial Dysostosis; Eye; Eye Abnormalities; Eyelids; Face; Hair; Humans; Hypertelorism; Infant; Male; Nose; Nose Deformities, Acquired; Orbit; Skull; Syndrome; Tissue Adhesions

The trichorhinophalangeal syndrome has recognizable clinical and radiographic features. In most patients, hand radiographs show typical cone-shaped epiphyses which affect predominantly the middle phalanges. Pattern profile analysis may help establish the diagnosis in the absence of typical clinical features of radiographic hand changes. The evolution of hip disease in young and older patients is illustrated and differs from what has been reported previously. Chest and spinal abnormalities, though not well known, are also features of this syndrome.

Topics: Adolescent; Child, Preschool; Epiphyses; Female; Femur; Femur Head; Femur Neck; Fingers; Hair; Hip; Humans; Nose; Pedigree; Pelvis; Radiography; Spine; Syndrome

Topics: Abnormalities, Multiple; Adolescent; Adult; Child; Child, Preschool; Female; Fingers; Hair; Hand; Humans; Male; Metacarpus; Nose; Radiography; Syndrome

Topics: Allergens; Bacteria; Brain Diseases; Drug Hypersensitivity; Dust; Humans; Hypothalamus; Methods; Nose; Syndrome

A roentgencephalometric analysis of eight males and four females with nevoid basal cell carcinoma syndrome (NBS) is presented. The patients were 14-54 years of age. Fourteen angular and 26 linear variables were measured and compared with control data. The main roentgencephalometric features were: proportionate increase of the size of the calvarium, protrusion of the frontal and parietal region, low position of the occipital region, increased interorbital distance, increased length of the mandible, mandibular retrognathia due to changes in shape and position of the mandible. The suggestion of a characteristic craniofacial morphology as a part of the syndrome was substantiated. Together with other skeletal aberrations the roentgencephalometric findings seemed to indicate that the syndrome is a dysostosis of generalized type.

Topics: Adolescent; Adult; Carcinoma, Basal Cell; Cephalometry; Dental Occlusion; Face; Female; Humans; Male; Mandible; Maxilla; Middle Aged; Nevus; Nose; Radiography; Skull; Syndrome

Topics: Acrocephalosyndactylia; Adolescent; Bone Development; Child; Craniofacial Dysostosis; Craniosynostoses; Female; Follow-Up Studies; Forehead; Humans; Hypertelorism; Infant; Male; Nose; Nose Deformities, Acquired; Syndrome

To define the role of adenoviruses in the pertussis syndrome, a study was done of a group of 134 children with clinical pertussis and a healthy control population of similar age, race, sex, and socioeconomic status. Adenovirus infections occurred in 30 (22.4%) of 134 patients with the pertussis syndrome and 5 (4.9%) of 101 control subjects (p smaller than 0.001). B. pertussis was recovered from 46 (34.3%) patients, and from 18 (39.1%) of these patients adenoviruses were also isolated. Although adenovirus infections also occurred in patients with the pertussis syndrome with negative cultures for B. pertussis, the rate, 12 of 88 patients (13.6%), was significantly lower (p smaller than 0.001). The clinical course was similar irrespective of the results of bacterial or viral cultures. These data substantiate the frequent association of adenoviruses with the pertussis syndrome, It would appear that adenoviruses do not usually have an independent role in the pathogenesis of the pertussis syndrome since we found them so commonly to be one agent in a mixed infection.

Topics: Adenoviridae; Adenoviridae Infections; Animals; Antibodies, Viral; Bordetella pertussis; Female; Humans; Infant; Leukocyte Count; Macaca mulatta; Male; Nose; Syndrome; Whooping Cough

Topics: Abnormalities, Multiple; Ankylosis; Arthrogryposis; Cardiomegaly; Clubfoot; Cryptorchidism; Ear, External; Face; Fingers; Humans; Infant; Infant, Newborn; Lung; Male; Mandible; Nose; Palate; Syndrome; Thumb

Topics: Adolescent; Adult; Cardiomegaly; Cerebral Ventricles; Child; Child, Preschool; Choroid; Dwarfism; Female; Fluorescein Angiography; Humans; Infant; Liver; Male; Muscle Tonus; Nose; Ophthalmoscopy; Pigmentation; Syndrome

Topics: Candidiasis, Oral; Chordoma; Darier Disease; Dermatitis; Diagnosis, Differential; Erythema; Gingival Neoplasms; Herpes Simplex; Humans; Hypersensitivity; Nose; Palatal Neoplasms; Papilloma; Precancerous Conditions; Purpura; Skin Diseases; Skin Neoplasms; Syndrome

Topics: Abnormalities, Multiple; Ankylosis; Cesarean Section; Clubfoot; Ear, External; Face; Female; Fetal Death; Fingers; Hip; Humans; Infant, Newborn; Knee; Lung; Nose; Pregnancy; Syndrome; Ulna

Topics: Adolescent; Adult; Age Factors; Aged; Antigen-Antibody Reactions; Child; Eye; Fluorescent Antibody Technique; Humans; Middle Aged; Nose; Pharynx; Skin; Staphylococcal Infections; Staphylococcus; Stevens-Johnson Syndrome; Syndrome

Topics: Adolescent; Adult; Child; Chromosome Aberrations; Chromosome Disorders; Craniofacial Dysostosis; Ectodermal Dysplasia; Face; Female; Hearing Disorders; Humans; Male; Myopia; Nose; Pedigree; Radiography; Strabismus; Syndrome

Topics: Adult; Aged; Bone Diseases, Developmental; Female; Fingers; Genes, Dominant; Hair; Humans; Male; Nose; Pedigree; Syndrome

Topics: Abnormalities, Multiple; Cleft Lip; Craniofacial Dysostosis; Encephalocele; Female; Fingers; Foot Deformities, Congenital; Genetic Counseling; Hernia, Umbilical; Humans; Infant, Newborn; Nose; Radiography; Skull; Syndrome

Topics: Abnormalities, Multiple; Body Height; Child, Preschool; Craniofacial Dysostosis; Ear; Face; Female; Head; Humans; Infant; Male; Maxilla; Middle Aged; Nose; Penis; Scrotum; Syndrome

Topics: Abnormalities, Multiple; Adolescent; Cephalometry; Child; Craniofacial Dysostosis; Dermatoglyphics; Fingers; Humans; Infant, Newborn; Intelligence; Male; Middle Aged; Neurologic Examination; Nose; Nose Deformities, Acquired; Skull; Syndactyly; Syndrome; Toes; Vision Disorders; Visual Acuity

Topics: Abnormalities, Multiple; Adipose Tissue; Child, Preschool; Dermoid Cyst; Ear, External; Eye Neoplasms; Fistula; Humans; Infant, Newborn; Male; Mandible; Mandibulofacial Dysostosis; Nasal Septum; Nose; Nose Deformities, Acquired; Orbit; Radiography; Salivary Glands; Skull; Syndrome; Zygoma

Topics: Abnormalities, Multiple; Adolescent; Bone Diseases, Developmental; Child; Diagnosis, Differential; Ear, External; Face; Facial Expression; Female; Fingers; Hair; Humans; Intellectual Disability; Male; Nose; Syndrome; Toes

Topics: Abnormalities, Multiple; Arm; Breast; Child; Cleft Lip; Ear; Ectodermal Dysplasia; Face; Female; Hair; Humans; Leg; Lip; Male; Nails, Malformed; Nose; Skin Abnormalities; Sweat; Syndrome; Tooth Abnormalities

Topics: Alopecia; Amino Acid Metabolism, Inborn Errors; Breast; Child; Cleft Lip; Dermatoglyphics; Ear; Ectodermal Dysplasia; Electrocardiography; Electroencephalography; Female; Follow-Up Studies; Growth Disorders; Humans; Lip; Male; Nails, Malformed; Nose; Skin Abnormalities; Sweating; Syndrome; Tooth Abnormalities

Topics: Abnormalities, Multiple; Adult; Chromosome Aberrations; Chromosome Disorders; Chromosome Mapping; Chromosomes, Human, 21-22 and Y; Craniofacial Dysostosis; Dermatoglyphics; Female; Fibroblasts; Humans; Hypertension; Infant, Newborn; Intellectual Disability; Karyotyping; Lymphocytes; Male; Micrognathism; Microphthalmos; Microscopy, Fluorescence; Nose; Palate; Pregnancy; Quinacrine; Skin; Skull; Syndrome

Topics: Alopecia; Child; Congenital Abnormalities; Fingers; Genetics, Medical; Hand Deformities; Humans; Infant; Nose; Nose Deformities, Acquired; Ophthalmology; Syndrome; Tooth

Topics: Cornea; Humans; Iritis; Neuralgia; Nose; Ophthalmic Nerve; Syndrome

Topics: Humans; Lip; Nose; Syndrome

Topics: Humans; Nasal Surgical Procedures; Nose; Otolaryngology; Physical Examination; Syndrome

Topics: Eyebrows; Eyelids; Hair; Humans; Iris; Nose; Syndrome

Topics: Humans; Nose; Nose Diseases; Syndrome

Topics: Anxiety; Disease; Humans; Nose; Psychophysiologic Disorders; Syndrome