phenylephrine-hydrochloride and Hypertelorism

Midline facial clefts are rare and challenging deformities caused by failure of fusion of the medial nasal prominences. These anomalies vary in severity, and may include microform lines or midline lip notching, incomplete or complete labial clefting, nasal bifidity, or severe craniofacial bony and soft tissue anomalies with orbital hypertelorism and frontoethmoidal encephaloceles. In this study, the authors present 4 cases, classify the spectrum of midline cleft anomalies, and review our technical approaches to the surgical correction of midline cleft lip and bifid nasal deformities. Embryology and associated anomalies are discussed.. The authors retrospectively reviewed our experience with 4 cases of midline cleft lip with and without nasal deformities of varied complexity. In addition, a comprehensive literature search was performed, identifying studies published relating to midline cleft lip and/or bifid nose deformities. Our assessment of the anomalies in our series, in conjunction with published reports, was used to establish a 5-tiered classification system. Technical approaches and clinical reports are described.. Functional and aesthetic anatomic correction was successfully achieved in each case without complication. A classification and treatment strategy for the treatment of midline cleft lip and bifid nose deformity is presented.. The successful treatment of midline cleft lip and bifid nose deformities first requires the identification and classification of the wide variety of anomalies. With exposure of abnormal nasolabial anatomy, the excision of redundant skin and soft tissue, anatomic approximation of cartilaginous elements, orbicularis oris muscle repair, and craniofacial osteotomy and reduction as indicated, a single-stage correction of midline cleft lip and bifid nasal deformity can be safely and effectively achieved.

Topics: Child, Preschool; Cleft Lip; Facial Muscles; Female; Humans; Hypertelorism; Infant; Infant, Newborn; Lip; Male; Nasal Cartilages; Nose; Nose Diseases; Orbit; Osteotomy; Plastic Surgery Procedures; Retrospective Studies; Rhinoplasty; Surgical Flaps

Topics: Adolescent; Child; Cleft Lip; Female; Genes, Dominant; Humans; Hypertelorism; Male; Maxillofacial Abnormalities; Nose; Siblings

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

With improved cytogenetic techniques, small deletions and duplications are being identified with increased frequency. We report four cases with terminal deletions involving the 6p24- and 6p25-pter chromosomal segment who exhibit a distinct, recognizable pattern of malformations including hypertelorism, downslanting palpebral fissures, flat nasal bridge, Dandy-Walker malformation/variant, congenital heart defects, anterior eye-chamber abnormalities, hearing loss, and developmental delay. We also compare the clinical aspects of these patients to those of previously reported cases in the literature with similar terminal deletions of chromosome 6p. Routine chromosome analysis can miss this deletion, therefore, high-resolution chromosome analysis is indicated for individuals who exhibit these distinct features. Furthermore, individuals with this deletion should have an ophthalmologic exam, cardiac evaluation, head imaging, renal ultrasound, and formal hearing evaluation.

Topics: Abnormalities, Multiple; Child, Preschool; Chromosome Deletion; Chromosomes, Human, Pair 6; Dandy-Walker Syndrome; Developmental Disabilities; Eye Abnormalities; Female; Heart Defects, Congenital; Humans; Hypertelorism; Infant; Nose; Phenotype

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

Topics: Amniotic Band Syndrome; Cleft Palate; Coloboma; Eyelids; Face; Facial Bones; Humans; Hypertelorism; Infant; Infant, Newborn; Lip; Male; Nose; Skin Abnormalities; Skull

The Gorlin-Goltz syndrome is characterized by four primary symptoms: multiple nevoid basal cell epitheliomas that usually undergo malignant transformation; jaw keratocysts that show constant growth; skeletal anomalies; and intracranial calcifications. A myriad of additional findings may also be noted. Among the most frequent are: palmar and plantar pits, a characteristic flattened facies and broad nasal root, frontal and parietal bossing, mandibular prognathia, hypertelorism, strabismus, dystrophia of the canthi, and clefts of the lip, alveolus, and/or palate. In this study, we review the literature and our 25 cases of Gorlin-Goltz syndrome patients, questioning their incidence of cleft formations (8.5%) as compared to the general population (0.1%). It is our contention that all patients who present with an orofacial cleft warrant deeper investigation as to the presence of additional signs indicative of Gorlin-Goltz syndrome. The nevi turn malignant with time, and thus, early diagnosis, follow-up, and treatment are imperative.

Topics: Adult; Alveolar Process; Basal Cell Nevus Syndrome; Brain Diseases; Calcinosis; Cell Transformation, Neoplastic; Cleft Lip; Cleft Palate; Diagnosis, Differential; Eyelid Diseases; Face; Facies; Female; Follow-Up Studies; Foot Deformities; Frontal Bone; Hand Deformities; Humans; Hypertelorism; Incidence; Jaw Cysts; Male; Mouth Abnormalities; Nose; Parietal Bone; Prognathism; Strabismus

Twenty-one patients with frontonasal dysplasia were studied. A 2:1 male-to-female sex ratio and increased paternal and maternal ages at the time of conception were found. The significance is uncertain because of small sample size and lack of normal mean values for parental age in Brazil. Apparently, our series is the first to report macrocephaly (six cases). Our series also had a high frequency of patients with agenesis of the corpus callosum (12 cases), basal encephalocele (10 cases), lipoma of the corpus callosum (four cases), and mental deficiency (11 cases). Three patients had the combination of agenesis of the corpus callosum, mental deficiency, and micropenis. It is concluded that frontonasal dysplasia is pathogenetically heterogeneous, representing a regional defect which may not be a single developmental field or sequence. Causal genesis includes a dominantly inherited form, dup(2q), and autosomal recessive Shanske syndrome. Of unknown genesis are two subsets of frontonasal dysplasia patients: 1) the combination of agenesis of the corpus callosum, tibial hypoplasia, and hallucal duplication and 2) ophthalmofrontonasal dysplasia or oculoauriculofrontonasal dysplasia with associated ear tags and epibulbar dermoids.

Topics: Abnormalities, Multiple; Adolescent; Agenesis of Corpus Callosum; Child; Child, Preschool; Diagnosis, Differential; Facial Bones; Female; Genes, Dominant; Genes, Recessive; Humans; Hypertelorism; Infant; Intellectual Disability; Male; Nose; Parents; Sex Ratio; Skull; Terminology as Topic

Excessive distance between the orbits is only one manifestation of a complex deformity that affects several skeletal and soft-tissue structures. This article discusses the classification, preoperative planning, and surgical procedures used in the reconstruction of orbital hypertelorism.

Topics: Adult; Child; Child, Preschool; Dissection; Female; Humans; Hypertelorism; Male; Nose; Orbit; Osteotomy; Patient Care Planning

FND is a non-uniform malformation complex with symptoms ranging between severe hypertelorism with bidfid nose and cranium bidfidum occultum with agenesis of the corpus callosum. Etiology and pathogenesis are discussed on the basis of a case history and some hints regarding differential diagnosis and genetic counselling are given. The exclusively sporadic occurrence of FND tells against a hereditary pathomechanism. Consequently, there is no recurrence risk. However, in families with an affected child, malformations generally tend to occur a little more often.

Topics: Abnormalities, Multiple; Agenesis of Corpus Callosum; Cerebral Ventricles; Cleft Lip; Cleft Palate; Diagnosis, Differential; Humans; Hypertelorism; Infant, Newborn; Male; Nose

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; Adult; Child, Preschool; Craniofacial Dysostosis; Deglutition Disorders; Ear; Face; Female; Humans; Hypertelorism; Hypospadias; Male; Micrognathism; Nose

BNAR syndrome (MIM608980) is a very rare condition: nine cases belonging to three unrelated families were reported since its first description in 2002. The distinctive clinical feature is the bifidity of the tip of the nose and its association with anorectal and/or renal anomalies. Its molecular basis consisting of biallelic FREM1 missense or nonsense mutations was elucidated after studying the original Egyptian family and was confirmed in two families originating from Afghanistan and Pakistan. We describe a fourth family originating from Turkey with signs challenging the diagnostic criteria suggested by the description of the three reported families.

Topics: Abnormalities, Multiple; Coloboma; Egypt; Humans; Hypertelorism; Male; Musculoskeletal Abnormalities; Nose; Nose Diseases; Pakistan; Phenotype; Receptors, Interleukin; Respiratory System Abnormalities; Turkey

Orbital hypertelorism is a common congenital craniofacial anomaly in Asians. As Tessier pointed out, the correction of hypertelorism is effectively the correction of the nasal deformity, which is characterized by a broad, flat nose accompanying an increased interorbital distance and a lack of nasal projection.. To measure the changes in the orbital and nasal parameters after Tessier box osteotomy and primary aesthetic rhinoplasty, performed concurrently with otogenous costochondral graft.. From 2009 to 2013, 49 hypertelorism patients were treated in our craniofacial unit. Correction involved a classic Tessier box osteotomy combined with aesthetic augmentation and reconstruction of the nasal dorsum using a costochondral graft. All patients underwent photographic and tomographic documentation both before and 12 months after surgery. Patients underwent morphometric analysis to document the change in interorbital distance, IOD, hypertelorism index, and aesthetic nasal parameters, including the nasal dorsum and alar width, the nasal dorsal height, and the index of nasal apex protrusion versus nasal length.. All patients were satisfied with the outcome of the combined orbital and nasal repair. Morphometric analysis indicated that the IOD, hypertelorism index, and aesthetic nasal parameters all improved following surgery. The resorption rate of the costochondral graft was 16-19%, and graft warpage was nearly absent. Although complications included infection, cerebrospinal fluid leak, and hyposomia, no severe or life-threatening complications occurred.. Tessier box osteotomy with primary aesthetic rhinoplasty using costochondral grafts has shown to be efficacious in the treatment of patients with hypertelorism.

Topics: Abnormalities, Multiple; Adolescent; Child; Humans; Hypertelorism; Nose; Rhinoplasty; Ribs; Young Adult

Cranium bifidum occultum is a disorder of skull ossification presenting as an enlarged posterior fontanelle in the upper posterior angle of the parietal bone near the intersection of the sagittal and lambdoid sutures. The standard treatment for cranium bifidum occultum is observation. We present a case of a 5-year-old boy who presented with a 15 × 4.5 cm midline posterior cranial vault defect consistent with diagnosis of cranium bifidum occultum associated with orbital hypertelorism and a widened nose. The patient underwent posterior vault reconstruction for correction of cranium bifidum occultum defect followed by bifrontal craniotomy and orbital box osteotomies for correction of orbital hypertelorism and nasal deformity. To our knowledge, this is the first reported case describing surgical treatment for cranium bifidum occultum associated with orbital hypertelorism.

Topics: Child, Preschool; Craniotomy; Encephalocele; Humans; Hypertelorism; Male; Nose; Orbit; Osteotomy; Plastic Surgery Procedures

The Simpson-Golabi-Behmel syndrome (SGBS) is an overgrowth condition characterised by macrosomia, mental deficiency, large head, prominent skull sutures, midface deficiency, hypertelorism, broad nose, wide mouth, macroglossia, malocclusion, highly arched palate, and musculoskeletal and limb abnormalities. The aim of this case report is to present clinical and oral findings of an 8-year-old boy who had been diagnosed with SGBS.. This patient had supernumerary nipples on the right side, cubitus valgus webbed fingers, scoliosis, umbilical hernia, a coarse face, macrocephaly, hypertelorism, a short broad nose, a wide mouth, a straight facial profile and hearing loss. The patient also had macroglossia, diastemas, over-retained primary tooth, absent mandibular permanent central incisors, and highly arched palate. Lateral cephalometric analysis revealed a large anterior cranial base, a large maxilla and mandible, a large inferior face height, and skeletal Class III jaw relationship.. After extraction of the over-retained primary central tooth, a partial prosthesis was fabricated in order to maintain function. The patient has been recalled regularly at 6-month intervals for 2 years. Over the following years the prosthesis was replaced due to facial growth.. Long term follow-up is essential for the patient with SGBS. Preventive dental care, including oral hygiene instructions, diet counselling and the use of fluoride has been implemented.

Topics: Anodontia; Arrhythmias, Cardiac; Cephalometry; Child; Denture, Partial, Removable; Diastema; Follow-Up Studies; Genetic Diseases, X-Linked; Gigantism; Heart Defects, Congenital; Humans; Hypertelorism; Incisor; Intellectual Disability; Macroglossia; Macrostomia; Male; Malocclusion, Angle Class III; Nose; Palate; Tooth, Deciduous

Tessier no 3 cleft, bony syngnathia, and maxillary duplication are rare as independent anomalies and have never been reported together in a single case. Here we present a patient with congenital bony syngnathia, maxillary duplication, and a Tessier no. 3 nasal cleft. Other abnormalities included situs inversus, dextrocardia, coarctation of the aorta, left choanal stenosis, left coloboma, and hypertelorbitism. Given the unique presentation, we present our early surgical management to this complex problem.

Topics: Aortic Coarctation; CHARGE Syndrome; Choanal Atresia; Coloboma; Dextrocardia; Diagnosis, Differential; Humans; Hypertelorism; Infant, Newborn; Male; Mandible; Maxilla; Nose; Situs Inversus

Topics: Anterior Eye Segment; Cataract; Coloboma; Congenital Abnormalities; Female; Humans; Hypertelorism; Infant, Newborn; Microphthalmos; Nose; Posterior Eye Segment

Heminasal agenesis is a rare congenital malformation often associated with deformities of the eyes and lacrimal system, midface, and proboscis lateralis. Reconstruction is especially challenging because of missing lining, cartilage, and skin. We present a case of heminasal agenesis in a 5-year-old girl with concomitant hypertelorism, coloboma of the eyelids, and maxillary hypoplasia. The patient underwent facial bipartition for hypertelorism correction and cantilever bone graft. A forehead flap was designed using an anaplastic model from the patient's twin sister. Cartilage harvested from the conchal bowl and rib provided alar and dorsal support. Reconstructive goals, timing, and options are discussed.

Topics: Child, Preschool; Coloboma; Eyelids; Female; Humans; Hypertelorism; Maxilla; Maxillofacial Abnormalities; Nose; Rhinoplasty; Treatment Outcome

The aim of this paper is to report a case of a patient with paramedian bilateral facial clefts and hypertelorism associated with a severe encephalocele and micro-orbit. The patient required a facial bipartition to correct a transsphenoidal encephalocele, and a modified medialization surgery of the orbits to simultaneously expand the micro-orbit and correct the hypertelorism. These procedures achieved hypertelorbitism correction, orbital expansion which allowed symmetrical facial growth, and a functional orbit that permitted the use of an ocular prosthesis. We present this unique case to highlight the predictable results of a procedure that combines 2 surgical reproducible techniques of craniofacial surgery.

Topics: Craniofacial Abnormalities; Encephalocele; Eye, Artificial; Female; Follow-Up Studies; Frontal Bone; Humans; Hypertelorism; Infant, Newborn; Microphthalmos; Nose; Orbit; Osteotomy; Plastic Surgery Procedures; Sphenoid Bone

Loss of function mutations in FREM1 have been demonstrated in Manitoba-oculo-tricho-anal (MOTA) syndrome and Bifid Nose Renal Agenesis and Anorectal malformations (BNAR) syndrome, but the wider phenotypic spectrum that is associated with FREM1 mutations remains to be defined. We screened three probands with phenotypic features of MOTA syndrome. In one severely affected infant who was diagnosed with MOTA syndrome because of bilateral eyelid colobomas, a bifid nasal tip, hydrometrocolpos and vaginal atresia, we found two nonsense mutations that likely result in complete loss of FREM1 function. This infant also had renal dysplasia, a finding more consistent with BNAR syndrome. Another male who was homozygous for a novel stop mutation had an extensive eyelid colobomas, corneopalpebral synechiae, and unilateral renal agenesis. A third male child diagnosed with MOTA syndrome because of corneopalpebral synechiae and eyelid colobomas had a homozygous splice site mutation in FREM1. These cases illustrate that disruption of the FREM1 gene can produce a spectrum of clinical manifestations encompassing the previously described MOTA and BNAR syndromes, and that features of both syndromes may be seen in the same individual. The phenotype of FREM1-related disorders is thus more pleiotropic than for MOTA and BNAR syndrome alone and more closely resembles the widespread clinical involvement seen with Fraser syndrome. Moreover, our first case demonstrates that vaginal atresia may be a feature of FREM1-related disorders.

Topics: Abnormalities, Multiple; Anal Canal; Coloboma; Consanguinity; Fatal Outcome; Female; Genetic Association Studies; Humans; Hypertelorism; Infant; Infant, Newborn; Kidney Diseases; Male; Molecular Diagnostic Techniques; Mutation; Nose; Phenotype; Receptors, Interleukin; Rectal Diseases; Sequence Analysis, DNA

Among congenital nasal deformities, proboscis lateralis is one of the rarest. Boo-Chai classified proboscis lateralis into four groups. Recently, we encountered a new case of proboscis lateralis with median cleft lip. We noticed that this classification had not been considered according to convalescence and embryologics, and further refinement seemed to be needed.. We reviewed all cases of proboscis lateralis reported in English through 2009 and classified them by intercanthal distance.. A total of 34 studies involving 50 cases were reviewed. Six cases were identified as having normal intercanthal distance. Three of them presented nose abnormalities and fit Boo-Chai group II category. The other three were consistent with group I. Hypertelorism was observed in 27 cases and was further divided into two groups based on the occurrence of a frontal encephalocele. Seventeen cases without a frontal encephalocele were compatible with Boo-Chai groups III and IV. The other 10 cases associated with a visible encephalocele had encephalopathy; most died at an early age, and long-term survival cases suffered developmental delay and mental retardation. Seventeen cases were defined as hypotelorism, and all cases also presented as holoprosencephaly.. The redefined classification contains two new groups: group V as hypertelorism with encephalocele and group VI as hypotelorism. A new classification scheme is proposed as not only convenient for clinical application but also embryologically accurate.

Topics: Abnormalities, Multiple; Cleft Lip; Encephalocele; Female; Holoprosencephaly; Humans; Hypertelorism; Infant, Newborn; Male; Maxillofacial Abnormalities; Nose

Williams-Beuren syndrome is a rare congenital disorder involving the cardiovascular system, mental retardation, distinctive facial features, and tooth anomalies. The aim of the present report is to show a 10-year-old girl with Williams-Beuren syndrome, her general and orofacial clinical characteristics and the dental management.

Topics: Child; Craniofacial Abnormalities; Dental Enamel Hypoplasia; Female; Humans; Hypertelorism; Lip; Malocclusion; Nose; Retrognathia; Tooth Abnormalities; Williams Syndrome

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 2-year-old girl was referred to our hospital because of a pulsating mass in the roof of the mouth. On examination, a mass measuring 4 × 5 cm was found in the roof of the mouth and nose with a secondary palatal cleft. She had hypertelorism, a bifid nose, and a visible cleft over the dorsum and skin of the nose. In 1 stage, the mass was opened, reduced, and repositioned into the cranial cavity, and the defect was repaired with 2 parallel bridges of split costal bone grafts. The bone grafts were placed between 2 layers of soft tissue and the mucosa repaired over it. Palatal cleft was repaired with the Veau-Wardill-Kilner method 1 year later. Fourteen years later, the bifid nose was corrected using a flying-bird incision and a costal cartilage graft for the dorsum of the nose. On follow-up, minimal scar remained on the tip of the nose. There was neither obliteration nor reduction in the size of the bony defect. There were no operative complications, and the shape of the nose improved. The patient and her parents were highly satisfied with the result.

Topics: Abnormalities, Multiple; Bone Transplantation; Child, Preschool; Cleft Palate; Encephalocele; Esthetics; Ethmoid Bone; Female; Follow-Up Studies; Humans; Hypertelorism; Nose; Plastic Surgery Procedures; Ribs; Sphenoid Bone

Craniofrontonasal dysplasia (CFND) is a rare developmental anomaly associated with an X-linked inheritance. It is predominantly expressed in females. A Chiari malformation (CM) has not been reported in such patients earlier. The authors report on a family with 3 female members who have marked and generalized CFND. The generalized bone dysplasia/hypertrophy resulted in reduction in the posterior cranial fossa volume in all 3 patients, and in a CM associated with syringomyelia in 2 of them. One of the 2 affected family members who had a CM and syringomyelia was symptomatic and was treated by foramen magnum decompression surgery. The 3 family members had remarkable similarity in their external facial features and in their radiologically revealed morphological features. A review of the relevant literature, genetic abnormalities, and pattern of inheritance is presented.

Topics: Abnormalities, Multiple; Arnold-Chiari Malformation; Craniofacial Dysostosis; Craniosynostoses; Family Health; Female; Humans; Hypertelorism; Middle Aged; Nose; Tomography, X-Ray Computed; Young Adult

Topics: Adolescent; Blepharoplasty; Enophthalmos; Ethmoid Bone; Female; Fracture Fixation, Internal; Humans; Hypertelorism; Nose; Orbital Fractures; Postoperative Complications; Reoperation; Skull Fractures; Suture Anchors; Tendon Injuries; Tendons

To summarize and analyze the diagnosis, treatment protocol, and therapeutic effect of orbital hypertelorism in the past 30 years in our center.. This retrospective study reviews the records of 128 patients from 1978 to 2008. Both radiologic measurements, such as the interorbital distance and the outer orbital distance, and anthropometric measurements, such as the width of the inner canthi (W-IC), the width of the palpebral fissure, the width of the face, and the nasofrontal angle, were conducted before and after the operation to evaluate both osseous and soft tissue alteration. An analysis of the etiology, surgical method, and complication has been undertaken.. The main cause of orbital hypertelorism in our center was craniofacial cleft. Significant improvement in cranio-orbital appearance was noted, and 91.4% of the patients were satisfied with the surgical correction. Follow-up examinations showed a statistically significant difference between preoperative and postoperative measurements: interorbital distance; outer orbital distance; facial ratios W-IC/width of the palpebral fissure and W-IC/width of the face (P < 0.01); and nasofrontal angle (P < 0.05). Temporary complications and side effects remained low, with cerebrospinal fluid leakage occurred as the major complication (6.3%).. There are several important protocols regarding the management of orbital hypertelorism that will provide patients with great benefit in achieving more aesthetic facial appearance.

Topics: Adolescent; Adult; Cephalometry; Cerebrospinal Fluid; Child; Child, Preschool; Clinical Protocols; Esthetics; Face; Facial Bones; Female; Fistula; Follow-Up Studies; Frontal Bone; Humans; Hypertelorism; Male; Nose; Orbit; Patient Satisfaction; Plastic Surgery Procedures; Postoperative Complications; Retrospective Studies; Treatment Outcome; Young Adult

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

The conventional or zigzag bicoronal incision has been widely used in craniofacial surgery. Unfortunately, after the incision, the temporoparietal (TP) fascia has to be abandoned because of its vascular or structural damages.. The author describes a technique to preserve the TP fascia during the incision.. The coronal incision stopped at the subcutaneous plane. The dissection continued subcutaneously under the posterior edge of the incision as in the elevation of TP fascia. After cutting through the TP fascia, the dissection continued anteriorly in the subgaleal plane as in the coronal dissection.. A total number of 15 craniofacial patients underwent bicoronal incision with this technique. The time spent for preservation of the TP fascia was 10 to 15 minutes for both sides.. The bicoronal incision with preserved TP fascia as described provides an alternative to the patient who may need TP fascia for future uses.

Topics: Ankylosis; Craniosynostoses; Dissection; Encephalocele; Fascia; Fasciotomy; Frontal Bone; Humans; Hypertelorism; Meningocele; Muscle, Skeletal; Nose; Parietal Bone; Plastic Surgery Procedures; Subcutaneous Tissue; Surgical Flaps; Temporal Arteries; Temporal Muscle; Temporomandibular Joint Disorders; Time Factors

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

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

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

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

We report a brother and sister born to consanguineous parents. The siblings have hypertelorism, bifid nose, upturned nares, histologically proven intranasal dermoid, and soft-tissue swellings of the philtrum. One sibling also has a midline cleft lip and the other has narrowing of the posterior choanae. We suggest that they have craniorhiny, despite the absence of an abnormal skull shape. The differential diagnosis is discussed.

Topics: Child; Child, Preschool; Cleft Lip; Congenital Abnormalities; Craniosynostoses; Diagnosis, Differential; Facies; Family Health; Female; Genes, Recessive; Humans; Hypertelorism; Male; Nose; Siblings

Cerebro-oculo-nasal syndrome (CONS) is characterized by structural anomalies of the central nervous system (encephalocele, ventricular dilatation, defects of corpus callosum, and even holoprosencephaly in one instance), by ocular alterations ranging from anophthalmia/microphthalmia to normal eyes, and by proboscis-like nares. Here, we report on 13 new cases with CONS, review 7 previously published cases, and evaluate the findings in all 20 patients. Despite marked variability among cases, the nasal configuration appears to be unique and diagnostic. Although one patient had a mutation in the PTCH gene, the cause of all other cases remains unknown to date.

Topics: Abnormalities, Multiple; Brain; Brazil; Child; Corpus Callosum; Developmental Disabilities; Eye Abnormalities; Fatal Outcome; Female; Humans; Hypertelorism; Infant; Male; Mutation; Nose

Craniofrontonasal dysplasia is a rare, familial X-linked syndrome with coronal synostosis (brachycephaly or plagiocephaly), hypertelorbitism (frequently asymmetric), and extracranial anomalies. Details of the timing and technique of the craniofacial correction have not been well described. The largest series of patients with craniofrontonasal dysplasia treated at a single institution was used for review.. A review of patients at the University of California, Los Angeles Craniofacial Clinic with the diagnosis of craniofrontonasal dysplasia was performed (n = 21). Data included office, hospital, and operative records; photographs; lateral cephalograms; and three-dimensional computed tomographic scans. Based on surgical outcomes, a treatment algorithm was created.. Fourteen patients were female, seven were male, and five had a family history of craniofrontonasal dysplasia (24 percent). Eight patients had unilateral coronal synostosis (plagiocephaly) and 13 had bilateral coronal synostosis (brachycephaly). Eleven patients had asymmetric hypertelorbitism and 10 had symmetric hypertelorbitism. Patients also had cleft lip-cleft palate (10 percent), ear deformities (19 percent), strabismus or esotropia (81 percent), dry frizzy hair (100 percent), syndactyly (14 percent), and nail (100 percent) or other anomalies. After fronto-orbital advancement, no patients had increased intracranial pressure problems or difficulty related to resynostosis. After hypertelorbitism correction, three patients relapsed. Because of this, correction in later patients was delayed until after eruption of permanent maxillary incisors. The mean anterior interorbital distance was reduced in patients from 184 percent to 98 percent of sex-matched controls.. The phenotypic expression of craniofrontonasal dysplasia is described to recognize patients early. A treatment algorithm for craniofrontonasal dysplasia based on timing and technique is offered to decrease the need for revision and improve outcomes.

Topics: Abnormalities, Multiple; Algorithms; Cleft Lip; Cleft Palate; Craniosynostoses; Eye Abnormalities; Female; Genetic Diseases, X-Linked; Hair; Humans; Hypertelorism; Infant; Limb Deformities, Congenital; Male; Nails, Malformed; Nose; Plastic Surgery Procedures; Retrospective Studies; Treatment Outcome

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

We report on a child with midline facial defects with hypertelorism (MFDH), median cleft lip, sphenoidal ventriculocele, partial agenesis of the corpus callosum, and low-grade astrocytoma in the cervicomedullary junction. This combination of findings has not been reported previously. Although this association might be casual, it demonstrates a relationship between disorders of frontonasal process and posterior fossae. It also suggests that individuals with MFDH might require a prospective follow-up with central nervous system magnetic resonance imaging.

Topics: Agenesis of Corpus Callosum; Astrocytoma; Brain Neoplasms; Child, Preschool; Cleft Lip; Craniofacial Abnormalities; Encephalocele; Follow-Up Studies; Humans; Hypertelorism; Magnetic Resonance Imaging; Male; Nose; Sphenoid Sinus

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

The study was carried out on 69 mentally challenged individuals. They were subjected to detailed clinical evaluation for dentofacial abnormalities and oral health status. Of the 69 mentally handicapped individuals 27 had Downs syndrome and 42 had cerebral palsy. Characteristic facial abnormalities were seen in children with Downs syndrome. In cerebral palsy, fracture maxillary anteriors were more evident. All the Downs syndrome cases had abnormal TMJ movements but in cerebral palsy only 35.7% of individuals had abnormal TMJ movements. In both the groups, submandibular lymph adenopathy was reported. Present study revealed dental caries in 56.0% of the individuals. Fair clinical level of oral hygiene in 60% of the individuals was seen.

Topics: Adolescent; Cerebral Palsy; Child; Craniofacial Abnormalities; Dental Caries; Disabled Children; Down Syndrome; Health Status; Humans; Hypertelorism; Incisor; Lymphatic Diseases; Malocclusion; Nose; Oral Health; Oral Hygiene; Palate, Hard; Persons with Mental Disabilities; Speech Disorders; Temporomandibular Joint Disorders; Tooth Abnormalities

We report an 8-year-old girl presented with a proboscis on the right nasal nostril, right heminasal hypoplasia, hypertelorism, and cleft lip and palate on the other side. After repair of the cleft lip and palate and the hypertelorism, we successfully reconstructed the heminose with a V-Y advancement flap containing the proboscis tube.

Topics: Abnormalities, Multiple; Child; Cleft Lip; Cleft Palate; Female; Humans; Hypertelorism; Nose; Rhinoplasty

The goal of this study was to use three-dimensional (3D) analysis to characterize the primary facial deformities in children with unilateral cleft lip and palate (UCLP) and then serially analyze the relationships between facial deformities and maxillofacial growth from infancy to adolescence.. Twenty-one Japanese subjects with unilateral cleft lip and alveolus (UCLA) and 20 with UCLP who had been operated on and then followed up for more than 15 years were enrolled in this study.. Facial cast models taken at cheiloplasty were scanned with a 3D laser scanner. Lateral cephalographs taken when subjects were 15 years of age or older were traced, and linear and angular measurements were calculated. The correlation between primary facial forms and maxillofacial morphology in adolescence was analyzed.. Three-dimensional analysis showed larger ocular hypertelorism, wider cleft, greater deviation of the columella base, and more severe retruded position of the affected nasal alar base in subjects with UCLP than those with UCLA. Total surface area of the upper lips in subjects with UCLP was significantly smaller than those with UCLA. Correlation analyses revealed that the width of cleft lip, deviation of the columella base, difference of the nose base width, and surface area of the upper lip were statistically correlated with the maxillary length, the anterior position of the maxillary alveolar base, the posterior facial height, and the high angle of the mandible.. The subjects who had less severe facial deformities and more tissue volume of the upper lips at cheiloplasty showed better maxillofacial growth.

Topics: Adolescent; Alveolar Process; Cephalometry; Child; Child, Preschool; Cleft Lip; Cleft Palate; Face; Follow-Up Studies; Humans; Hypertelorism; Imaging, Three-Dimensional; Lasers; Lip; Longitudinal Studies; Mandible; Maxilla; Maxillofacial Development; Nose; Vertical Dimension

A subtle balanced translocation involving the terminal regions of 1q and 3p was identified in a large family by high-resolution karyotype analysis and confirmed by fluorescence in situ hybridization (FISH) analysis. In this family, segregation of a balanced t(1:3)(q42.3;p25) chromosome translocation led to two types of viable unbalanced complements. The proband inherited the derivative chromosome 3, resulting in partial trisomy of 1q and partial monosomy of 3p. A paternal uncle and cousin had the reciprocal rearrangement with a derivative of chromosome 1, resulting in partial monosomy for 1q and partial trisomy for 3p. While profound mental and physical retardation and congenital heart defects were characteristics for both rearrangements, facial dysmorphism was quite distinct for each imbalance. Individuals who had the derivative chromosome 3 had a long face, wide eyebrows, small palpebral fissures, hypertelorism, prominent glabella, a large tip of the nose, long philtrum with thin upper lip, and low set-ears. In contrast, family members with the derivative of chromosome 1 had a tall forehead with bifrontal narrowing, full and large cheeks, and large simple ears. Since the translocated segments are small and approximately equal in size in this family, it is not surprising that viability was seen in individuals with both types of adjacent-1 segregation. In this kindred, the ratio of normal to abnormal individuals born to balanced carriers is believed to be about 1:1.5. This suggests that the recurrence risk for carriers is 50%.

Topics: Abnormalities, Multiple; Adult; Chromosome Banding; Chromosome Segregation; Chromosomes, Human, Pair 1; Chromosomes, Human, Pair 3; Face; Family Health; Fatal Outcome; Female; Growth Disorders; Heart Defects, Congenital; Humans; Hypertelorism; In Situ Hybridization, Fluorescence; Infant; Infant, Newborn; Intellectual Disability; Karyotyping; Male; Nose; Pedigree; Translocation, Genetic

Topics: Child; Cleft Lip; Craniofacial Abnormalities; Female; Frontal Bone; Humans; Hypertelorism; Nose; Plastic Surgery Procedures; Radiography

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

Fetal face malformations represent one of the most challenging prenatal diagnoses mainly because of the wide range of morphological features involved. We tested an approach based on a combination of conventional two-dimensional ultrasound with the more recent three-dimensional technique plus magnetic resonance imaging, in order to improve parents' understanding of fetal face anomalies, thereby facilitating parent counselling.. Two cases of fetal facial anomaly were studied using these combined techniques; one had severe micrognathia and malformation of the ears with preauricular tags, while the other had bilateral dacryocystocele and severe hypertelorism.. The images generated by three-dimensional ultrasound enabled the parents to visualize their child immediately and helped them to adjust to the diagnosis of facial defects and its clinical consequences.. An approach based on combined use of different imaging techniques was found useful in both cases.

Topics: Adult; Congenital Abnormalities; Ear, External; Face; Female; Humans; Hypertelorism; Imaging, Three-Dimensional; In Situ Hybridization, Fluorescence; Infant, Newborn; Lacrimal Apparatus; Magnetic Resonance Imaging; Male; Micrognathism; Nose; Pregnancy; Pregnancy Outcome; Prenatal Diagnosis; Ultrasonography, Prenatal

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

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

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

Teebi (1987) described an autosomal dominant syndrome with resemblance to craniofrontonasal dysplasia. Here we present a 2 year 5 month old girl with Teebi syndrome showing a prominent forehead, hypertelorism, mild exophthalmos, downslanting palpebral fissures, a depressed nasal bridge, a broad nasal tip, a long philtrum, natal teeth, a thin upper lip, an everted lower lip, a small chin, low-set ears, preauricular fistulas, a short neck, mild pectus excavatum, an umbilical hernia, clinodactyly of the 5th fingers with mild radial deviation of the distal phalanges of the middle fingers, mild pes adductus, an ectopic kidney, and normal psychomotor development. Her mother and her grandmother had similar features.

Topics: Abnormalities, Multiple; Adult; Child, Preschool; Family Health; Female; Forehead; Genes, Dominant; Humans; Hypertelorism; Lip; Nose; Phenotype

Two sisters are reported with up-slanting palpebral fissures, hypertelorism, ptosis, a broad, bifid nasal tip, a high-arched palate, mental retardation, abnormal EEG and hand malformations in one of the patients. The girls' parents originate from the same village. Although the findings resemble the recently defined neurofaciodigitorenal syndrome, some findings suggest that this is a newly recognized syndrome.

Topics: Abnormalities, Multiple; Blepharoptosis; Child; Child, Preschool; Electroencephalography; Family Health; Female; Humans; Hypertelorism; Intellectual Disability; Nose; Nuclear Family; Tooth Abnormalities

This article establishes the soft-tissue norms among Filipino children from ages birth to 17 years of age. Specific measurements were made at the inner canthal region, the outer canthal region, and the nasal length. This was to help establish normative graphs among this population of children.

Topics: Adolescent; Asian People; Cephalometry; Child; Child, Preschool; Female; Forehead; Humans; Hypertelorism; Infant; Logistic Models; Male; Maxillofacial Development; Nose; Orbit; Philippines; Reference Values

Topics: Child, Preschool; Craniofacial Abnormalities; Encephalocele; Female; Humans; Hypertelorism; Nose; Plastic Surgery Procedures; Skull

Topics: Abnormalities, Multiple; Brain Neoplasms; Child; Cleft Lip; Cleft Palate; Corpus Callosum; Humans; Hypertelorism; Lipoma; Male; Nose; Tomography, X-Ray Computed

Median craniofacial clefts are classified as median facian cleft deformities and are characterized by clefts of the nose involving the skull base. They can be accompanied by hypertelorism and/or encephaloceles. From a total of 22 of our patients with median deformities, three encephaloceles and two severe median nasal clefts with hypertelorism were considered in 2- to-8-year-olds. Two children with severe brain deformities died before the commencement of therapy. The remaining median deformities were corrected as soon as possible, whereby exclusively soft-tissue surgery was performed during the first year of life and in no case later than school admittance. Final corrections on the nasal skeleton were made after the age of 12. No growth disturbances of the middle face or jaw occurred subsequent to craniotomies and corrections of hypertelorism. Plate osteosynthesis has proven to be the most reliable method of stabilization; we removed the osteosynthetic material in all cases. The multiplicity of possible deformities requires that procedures be tailored to the individual case.

Topics: Adolescent; Adult; Child; Child, Preschool; Cleft Lip; Craniofacial Abnormalities; Encephalocele; Female; Follow-Up Studies; Humans; Hypertelorism; Male; Nose; Skull Base; Treatment Outcome

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

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

Topics: Adult; Diseases in Twins; Encephalocele; Facial Bones; Female; Fetal Diseases; Humans; Hypertelorism; Nose; Pregnancy; Pregnancy, Multiple; Twins, Dizygotic; Ultrasonography, Prenatal

Nine cases of frontonasal dysplasia were seen during an 8-year period. Seven were managed in the authors' institution, and the two adult relatives were referred to adult units. The age and sex distribution, the types of defects, and the family pedigree of an affected family are described. Management criteria were formulated according to the severity and other associated abnormalities.

Topics: Abnormalities, Multiple; Adult; Child; Child, Preschool; Cleft Lip; Cleft Palate; Coloboma; Craniofacial Abnormalities; Diagnostic Imaging; Female; Frontal Bone; Humans; Hypertelorism; Infant; Male; Nose; Pedigree; Retrospective Studies

A clinical study of the craniofacial features in Apert syndrome is based on our experience with 136 cases. Characteristics included hyperacrobrachycephaly, steep wide forehead, flat occiput, common craniofacial asymmetry, ocular hypertelorism and proptosis, downslanting palpebral fissures, divergent upgaze and esotropic downgaze, a tendency towards large ears, and marked depression of the nasal bridge. The nose is short and wide with a bulbous tip, and the anterior facial height is reduced. Common features during infancy included horizontal grooves above the supraorbital ridges that disappear with age, a break in the continuity of the eyebrows, and a trapezoidal-shaped mouth at rest. Radiographic aspects of Apert syndrome were also assessed. Tables are provided which compare the craniofacial features of Apert and Crouzon syndromes.

Topics: Acrocephalosyndactylia; Craniofacial Dysostosis; Ear, External; Esotropia; Exophthalmos; Eyelid Diseases; Face; Facial Asymmetry; Facial Bones; Forehead; Humans; Hypertelorism; Infant; Mouth Abnormalities; Nasal Bone; Nose; Occipital Bone; Orbit; Radiography; Skull; Strabismus

Evaluation of the fetal face is an essential part of the sonographic examination for high risk pregnancies. Even under optimal conditions, the complex curvature of the face makes it difficult to obtain adequate images with two-dimensional ultrasonography, and many cross-sectional images are required to obtain a complete impression. The purpose of this paper is to show preliminary work in assessing the utility of three-dimensional ultrasonographic visualization of the fetal face. Fetal facial features were evaluated with three-dimensional sonography by scanning with a volume transducer and compared to conventional two-dimensional ultrasonographic images in 27 fetuses (gestational ages 10 to 39 weeks). Surface rendered three-dimensional sonographic images of the fetal face were obtained in 24 of 27 fetuses. In four cases the upper lip was clearly imaged on three-dimensional ultrasonography when it could not be seen on two dimensional ultrasonography. Information requiring multiple planes with two-dimensional ultrasonography could be demonstrated on a single image from three-dimensional ultrasonography. Images of abnormal faces were seen with both two- and three-dimensional ultrasonography in two cases of cleft lip and one case of holoprosencephaly. Volume data acquisition required approximately 10 sec and reconstruction required approximately 5 sec with instantaneous review of planes through the volume data set. Surface rendering required 2 to 10 min depending on the angular viewing range. Three-dimensional ultrasonography has the potential to provide improved visualization of the fetal face compared with conventional two-dimensional sonographic imaging.

Topics: Anencephaly; Cleft Lip; Cleft Palate; Face; Female; Fetal Diseases; Gestational Age; Holoprosencephaly; Humans; Hypertelorism; Image Enhancement; Image Processing, Computer-Assisted; Lip; Nose; Pregnancy; Transducers; Ultrasonography, Prenatal

The results of monobloc (MB) or facial bipartition (FB) osteotomies on 23 consecutive patients operated on between 1987 and 1991 were evaluated.. A previously described method of clinically relevant linear measurements taken from preoperative and postoperative computed tomographic scans of these patients was used to document their presenting dysmorphology and the results of surgical correction initially and 1 year after operation. These data were compared with control values, and a percentage of normal for each measurement was derived for each patient.. In the patients with craniofacial dysostosis undergoing an MB osteotomy, the initial cranial vault length (87% of normal), medial orbital wall length (87%), zygomatic arch length (84%), and extent of globe protrusion (134%) all indicated horizontal (anterior-posterior) deficiency of the upper and middle face. After surgery, these measurements moved closer to age-matched control values. At the 1-year interval a minor degree of relapse was evident. In the patients with craniofacial dysostosis who were believed to need an FB osteotomy, the globe protrusion (142% of normal), medial orbital wall length (85%), and zygomatic arch lengths (83%) all indicated horizontal (anterior-posterior) deficiency in the upper and middle face. In addition, the anterior interorbital distance (123% of normal), mid-interorbital distance (122%), and intertemporal distance (126%) all indicated upper face hypertelorism. As a result of the FB osteotomy, anterior bony projection was achieved, and the hypertelorism was improved, but fell short of age-matched normal values. In the patients with frontonasal dysplasia, cranio-orbital clefting, and isolated orbital hypertelorism who underwent an FB osteotomy, preoperative measurements showed a distinct widening of the whole upper midface with forward projection of the medial relative to the lateral orbital walls. The orbital measurements revealed a substantially widened anterior interorbital distance (175% of normal), increased mid-interorbital distance (123%), and an increased distance between the lateral orbital walls (106%). After the surgical procedure, these measurements were improved and relatively stable but not completely normalized.. The use of quantitative measurements in the initial evaluation, intraoperative skeletal reshaping, and assessment of early and late reconstructive results provides useful benchmarks.

Topics: Acrocephalosyndactylia; Adolescent; Case-Control Studies; Cephalometry; Child; Child, Preschool; Craniofacial Dysostosis; Facial Bones; Female; Follow-Up Studies; Frontal Bone; Humans; Hypertelorism; Male; Nose; Osteotomy; Outcome and Process Assessment, Health Care; Prospective Studies; Tomography, X-Ray Computed

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

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

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

The number 2 craniofacial cleft as described by Tessier is an extremely rare cleft of unknown aetiology with distinct soft tissue and bony characteristics. The location of the deformity on the nostril rim is a distinguishing feature of the cleft. It traverses the alveolar arch at the level of the lateral incisor, middle third of the alar rim, the junction between the nasal bone and the frontal process of the maxilla and continues cranially as a number 12 cleft. One such patient with bilateral interruption of the middle third of the alar rim and mild asymmetrical hypertelorism is described.

Topics: Child; Congenital Abnormalities; Face; Humans; Hypertelorism; Male; Maxilla; Nasal Bone; Nose

Sutural anomalies in conjunction with craniofacial clefting are unusual. A case of median frontal clefting is presented in which there was an absence of a normal metopic suture and replacement by paramedian frontal sutures. The association of an underlying brain anomaly, with attendant surgical difficulties, is noted, as are the radiological techniques of preoperative diagnosis.

Topics: Abnormalities, Multiple; Cranial Sutures; Encephalocele; Female; Frontal Bone; Humans; Hypertelorism; Infant; Nose; Tomography, X-Ray Computed

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

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

We describe a 10-year-old girl with features of a frontonasal dysplasia and a right-sided Poland anomaly. As there has been one previous case report of pectoral muscle hypoplasia in association with craniofrontonasal dysplasia, the relationship between these two conditions is discussed.

Topics: Abnormalities, Multiple; Child; Craniosynostoses; Female; Humans; Hypertelorism; Nose; Poland Syndrome

Findings of 55 ultrasound examinations have been evaluated in 35 fetuses with various facial malformations detected by ultrasound and confirmed at birth. Ultrasonographic presentations and diagnostic criteria are given for major facial, palate and lip clefts, abnormal nasal shape, hypo and hypertelorism, microphthalmia, exophthalmia, micro and macrogenia, macroglossia. Ultrasonography proves to be a highly revealing diagnostic study with the provision of a good structural visualization and physicians' skill.

Topics: Cleft Palate; Eye Abnormalities; Female; Humans; Hypertelorism; Nose; Pregnancy; Ultrasonography, Prenatal

A lateral proboscis usually occurs in the region of the inner canthus. We present a case of holoprosencephaly accompanied by an oblique facial cleft and an anterior encephalocele in which a proboscis lateralis occurred in a very lateral location.

Topics: Abnormalities, Multiple; Brain; Cerebellar Diseases; Child, Preschool; Cleft Lip; Cleft Palate; Encephalocele; Eye Abnormalities; Facial Bones; Female; Humans; Hypertelorism; Nose

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

Three children with frontonasal dysplasia associated with tetralogy of Fallot are reported. All cases had true hypertelorism and a median nasal groove with absence of the nasal tip. There was no mental deficiency. The facial anomaly is a sporadic, non-genetic interference of the normal development of the face. This is the first report of frontonasal dysplasia associated with a cardiac defect. Multifactorial inheritance of this syndrome is proposed.

Topics: Abnormalities, Multiple; Bone Diseases, Developmental; Child; Female; Humans; Hypertelorism; Infant; Male; Nose; Tetralogy of Fallot

The importance of skeletal reduction of the interorbital distance in the treatment of patients with teleorbitism is now well recognized. In spite of this, results of surgery are not always as good as one would hope. For this there are two reasons: (1) reduction of the interorbital distance may be followed by deformities such as canthal drift, enophthalmus, pseudoptosis, and so forth; and (2) hypertelorism is frequently associated with a variety of other malformations that become more conspicuous after reduction of the interorbital distance. In this paper attention is focused on the mechanisms responsible for the appearance of new stigmata, on their prevention, and also on the treatment of the associated malformations.

Topics: Abnormalities, Multiple; Adult; Blepharoptosis; Child; Child, Preschool; Craniofacial Dysostosis; Eye Abnormalities; Facial Asymmetry; Female; Humans; Hypertelorism; Lacrimal Apparatus; Male; Nose; Oculomotor Muscles; Orbit; Rhinoplasty; Surgery, Plastic

Converse is using the term "interorbital space" for the ethmoid bone, especially its lateral wall. We added the frontal process of the upper jaw including spongy substance ("trajector"). Pathophysiology and clinical points of view of comminuted fractures are demonstrated.

Topics: Blepharoptosis; Craniofacial Dysostosis; Ethmoid Bone; Frontal Bone; Humans; Hypertelorism; Nose; Oculomotor Muscles; Orbit; Orbital Fractures; Skull Fractures

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

Topics: Brain Diseases; Cleft Palate; Craniofacial Dysostosis; Female; Foot Deformities, Congenital; Humans; Hypertelorism; Infant; Infant, Newborn; Joint Dislocations; Nose

Topics: Congenital Abnormalities; Craniosynostoses; Diagnosis, Differential; Ear; Eye Abnormalities; Eye Color; Female; Hair; Hair Color; Humans; Hypertelorism; Infant, Newborn; Male; Mouth Abnormalities; Nose

Topics: Adult; Bone Transplantation; Child; Child, Preschool; Craniofacial Dysostosis; Esotropia; Humans; Hypertelorism; Male; Nose; Orbit; Osteotomy; Smell; Taste

Topics: Adolescent; Craniofacial Dysostosis; Humans; Hypertelorism; Male; Nose; Rhinoplasty

The soft tissue deformities associated with hyperteleorbitism often present serious reconstructive problems. Although skeletal correction is the basic preliminary step, the final result depends on the quality of the soft tissue and nasal repair. The patients are not interested in the postoperative intercanthal distance or the appearance of the X-ray film. What they want is a good aesthetic appearance and this is closely related to the shape and size of the nose. The short wide noses of the true hyperteleorbitism must be differentiated from the long noses associated with meningoencephalocele and pseudohypertelorism. For the first group, narrowing of the nose and the use of a forehead flap is indicated according to the severity of the problem. For the second group, shortening of the nose is accomplished by transverse resection of skin via a U shaped incision or skin replacement with a forehead flap. Downward sliding of forehead and brows may be necessary. The indication for each procedure is discussed and the different techniques are described.

Topics: Abnormalities, Multiple; Adult; Craniofacial Dysostosis; Encephalocele; Esthetics; Female; Humans; Hypertelorism; Male; Meningocele; Nose; Orbit; Surgical Flaps

Topics: Abnormalities, Multiple; Acrocephalosyndactylia; Craniofacial Dysostosis; Cryptorchidism; Ear, External; Humans; Hypertelorism; Infant; Male; Nose; Strabismus

Topics: Cleft Lip; Cleft Palate; Craniofacial Dysostosis; Humans; Hypertelorism; Maxilla; Nose

The onset of canthal drift after hypertelorism repair can nullify the effectiveness of the repair, despite roentgenographic evidence of normal interorbital distance. The problem of hypertelorism is simply replaced by the problem of telecanthus. An excess of bulky tissue between the orbits contributes to the problem. A procedure is described in which excess soft tissue (fat, nasal muscles, and parts of the orbicularis oculi) are excised. A pulley canthopexy with a figure-of-eight suture of polypropylene is performed to bring the canthal tendons together using a hollow awl with a removable handle. The pulley gives a 4 to 1 mechanical advantage to the suture, adding control and distributing the forces over a wider area. The pulley canthopexy is a valuable tool not only in congenital anomalies but also for correcting long-standing traumatic telecanthus and acute detachment of the canthal ligaments.

Topics: Craniofacial Dysostosis; Facial Injuries; Humans; Hypertelorism; Nose; Polypropylenes; Postoperative Complications; Surgery, Plastic; Suture Techniques

Topics: Adult; Asian People; Child; Craniofacial Dysostosis; Female; Humans; Hypertelorism; Infant; Male; Methods; Nose; Orbit; Radiography; Skull; Surgery, Plastic

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

Topics: Abnormalities, Multiple; Chromosome Deletion; Cleft Lip; Cleft Palate; Heart Septal Defects, Ventricular; Humans; Hypertelorism; Infant; Infant, Newborn; Male; Nose; Sex Chromosomes; Transposition of Great Vessels; Y Chromosome

Topics: Child; Craniofacial Dysostosis; Facial Bones; Female; Humans; Hypertelorism; Maxilla; Nose; Surgery, Plastic

Between 1971 and 1977, 40 patients with orbital hypertelorism were operated on by the craniofacial team in Toronto. Results have improved as a result of this experience. Tomography in two planes has revealed four types of medial orbital wall deformity. Cephalographs proved inadequate to understand this three-dimensional problem. Mobilization of the orbits and their correct realignment, with removal of the precise amount of interorbital bone, are only preliminary steps in producing good results. Different techniques for reattachment of the medial canthal ligament, correct orientation of the lateral canthus, changes in methods of nasal excision, and the elimination of other facial or eyelid scars are helping to produce more normal looking patients. Simultaneous major intraoral procedures have been the greatest source of complications. Limitation of this surgery to one team has given sufficient experience to enable a diminution in morbidity and a halving in blood loss and time taken for the operation.

Topics: Adolescent; Adult; Child; Child, Preschool; Craniofacial Dysostosis; Dermatologic Surgical Procedures; Diagnosis, Differential; Eyelids; Female; Humans; Hypertelorism; Infant; Ligaments; Male; Nose; Orbit; Osteotomy; Postoperative Complications; Surgery, Plastic

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 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

Our experiences in managing 17 patients with nasofrontal-ethmoidal injuries is reviewed. The treatment of frontal injuries, cerebrospinal fluid leaks, and pseudohypertelorism is discussed.

Topics: Adolescent; Adult; Cerebrospinal Fluid Rhinorrhea; Child; Child, Preschool; Ethmoid Bone; Female; Frontal Bone; Humans; Hypertelorism; Male; Middle Aged; Nose

Topics: Adolescent; Cartilage; Child; Child, Preschool; Female; Growth; Humans; Hypertelorism; Male; Mandible; Nose; Nose Deformities, Acquired; Osteomyelitis; Ribs; Surgery, Plastic; Transplantation, Homologous

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

Topics: Accidents, Traffic; Bone Regeneration; Facial Injuries; Humans; Hypertelorism; Male; Methods; Nose; Skin Transplantation; Surgery, Plastic

Topics: Child; Craniofacial Dysostosis; Female; Frontal Bone; Humans; Hypertelorism; Lip Diseases; Mucocele; Nose; Radiography; Skin Abnormalities

Topics: Cleft Lip; Cleft Palate; Humans; Hypertelorism; Nose; Nose Diseases