phenylephrine-hydrochloride and Facies

phenylephrine-hydrochloride has been researched along with Facies* in 33 studies

Reviews

6 review(s) available for phenylephrine-hydrochloride and Facies

ArticleYear
Making extra teeth: Lessons from a TRPS1 mutation.
    American journal of medical genetics. Part A, 2017, Volume: 173, Issue:1

    A Thai mother and her two daughters were affected with tricho-rhino-phalangeal syndrome type I. The daughters had 15 and 18 supernumerary teeth, respectively. The mother had normal dentition. Mutation analysis of TRPS1 showed a novel heterozygous c.3809_3811delACTinsCATGTTGTG mutation in all. This mutation is predicted to cause amino acid changes in the Ikaros-like zinc finger domain near the C-terminal end of TRPS1, which is important for repressive protein function. The results of our study and the comprehensive review of the literature show that pathways of forming supernumerary teeth appear to involve APC and RUNX2, the genes responsible for familial adenomatous polyposis syndrome and cleidocranial dysplasia, respectively. The final pathway resulting in supernumerary teeth seems to involve Wnt, a morphogen active during many stages of development. © 2016 Wiley Periodicals, Inc.

    Topics: Adult; DNA Mutational Analysis; DNA-Binding Proteins; Facies; Female; Fingers; Genetic Association Studies; Hair Diseases; Heterozygote; Humans; Langer-Giedion Syndrome; Middle Aged; Models, Biological; Mutation; Nose; Phenotype; Radiography; Repressor Proteins; Tooth, Supernumerary; Transcription Factors

2017
Congenital atrichia and hypotrichosis.
    World journal of pediatrics : WJP, 2011, Volume: 7, Issue:2

    Alopecia present from birth includes a broad differential diagnosis and often represents a diagnostic and therapeutic challenge for the involved physician.. An initial correct diagnosis and classification is essential because structural hair defects may be the expression of a genetic disorder affecting hair growth, part of a congenital syndrome with accompanying hair malformations, or a marker for an underlying metabolic disorder and may impact the mental and physical development of a child. Pathological hair loss rarely occurs in the first year of life; however, it may be a leading symptom of many congenital diseases.. In recent years, the clinical and microscopic features of hereditary hair shaft disorders have been characterized and classified. Furthermore, significant progress has been made in our knowledge of genes that control the normal development and differentiation of hair follicles, and thus the research is to define and classify the hair disorders within a genetic basis.. In this article we discuss several types of genotrichosis and provide a practical classification based on their clinical features.

    Topics: Alopecia; Aneurysm; Carcinoma, Basal Cell; Child; Cleft Lip; Cleft Palate; Deafness; Ectodermal Dysplasia; Eczema; Facies; Fingers; Growth Disorders; Hair Diseases; Hallermann's Syndrome; Histiocytoma, Benign Fibrous; Humans; Hypotrichosis; Ichthyosis; Intellectual Disability; Keratitis; Langer-Giedion Syndrome; Microcephaly; Nose; Skin Diseases, Genetic; Skin Neoplasms

2011
A different look: 3-dimensional facial imaging of a child with Binder syndrome.
    American journal of orthodontics and dentofacial orthopedics : official publication of the American Association of Orthodontists, its constituent societies, and the American Board of Orthodontics, 2007, Volume: 132, Issue:5

    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

2007
[Floating-Harbor syndrome].
    Ryoikibetsu shokogun shirizu, 2001, Issue:33

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

2001
Osteosclerosis, hypoplastic nose, and proptosis (Raine syndrome): further delineation.
    American journal of medical genetics, 1999, Sep-17, Volume: 86, Issue:3

    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

1999
Examine your orofacial cleft patients for Gorlin-Goltz syndrome.
    The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association, 1997, Volume: 34, Issue:4

    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

1997

Other Studies

27 other study(ies) available for phenylephrine-hydrochloride and Facies

ArticleYear
Novel mutation of TRPS1 in a patient with tricho-rhino-phalangeal syndrome.
    Clinical and experimental dermatology, 2021, Volume: 46, Issue:3

    Topics: Facies; Female; Fingers; Foot Deformities, Congenital; Hair Diseases; Hand Deformities, Congenital; Humans; Mutation, Missense; Nose; Pedigree; Repressor Proteins; Toes; Young Adult

2021
Sequence variants in GDF5 and TRPS1 underlie brachydactyly and tricho-rhino-phalangeal syndrome type III.
    Pediatrics international : official journal of the Japan Pediatric Society, 2018, Volume: 60, Issue:3

    Topics: Brachydactyly; DNA-Binding Proteins; Facies; Female; Fingers; Foot Deformities, Congenital; Frameshift Mutation; Genetic Markers; Growth Differentiation Factor 5; Hair Diseases; Hand Deformities, Congenital; Heterozygote; Humans; Male; Mutation, Missense; Nose; Pedigree; Repressor Proteins; Toes; Transcription Factors

2018
Congenital nasal pyriform aperture stenosis and ocular albinism co-occurring in a sibship with a maternally-inherited 97 kb Xp22.2 microdeletion.
    American journal of medical genetics. Part A, 2014, Volume: 164A, Issue:5

    Congenital Nasal Pyriform Aperture Stenosis (CNPAS) is a rare congenital malformation caused by overgrowth of the maxillary bone. We report on two patients, brothers born 3 and 1½ years apart, both presented at birth with radiographically diagnosed CNPAS. Both siblings also were born with ocular albinism, which is known to have X-linked inheritance. Subsequent genetic testing demonstrated a 97 kb deletion in the p arm of the X chromosome in both siblings and their mother. This deletion encompasses a gene known to cause ocular albinism (GPR143), as well as partial deletion of two other genes, TBL1X and SHROOM2. This is the first reported case of CNPAS in siblings, both males, sharing a maternally inherited Xp22.2 deletion.

    Topics: Albinism, Ocular; Chromosome Deletion; Chromosome Mapping; Chromosomes, Human, X; Eye Proteins; Facies; Genetic Diseases, X-Linked; Humans; Infant; Male; Membrane Glycoproteins; Nose; Siblings; Tomography, X-Ray Computed; Transducin

2014
Mild nasal clefting may be predictive for ALX4 heterozygotes.
    American journal of medical genetics. Part A, 2014, Volume: 164A, Issue:8

    Heterozygous loss-of-function mutations in ALX4 are responsible for enlarged parietal foramina, whereas patients with biallelic ALX4 mutations display a phenotypic spectrum of clinical findings, from mild to severe alopecia, cranium bifidum, hypertelorism, microphthalmia, with alar clefting being the pivotal sign in all affecteds. We report on four affected individuals in a three-generation family, displaying a phenotypic spectrum ranging from mild nasal clefting and broad columella to subtle changes in nasal configuration in addition to parietal foramina, caused by a novel ALX4 mutation (c.646C>G, p.Arg216Gly). This is the second report of a family showing vertical transmission of a dominant ALX4 mutation with facial involvement in addition to parietal foramina, mimicking mild recessive ALX4 phenotype. We discuss possible pathological mechanisms that may have lead to phenotypic variation in the family and challenges in genetic counseling.

    Topics: Abnormalities, Multiple; Adult; Brain; Child; Child, Preschool; Consanguinity; DNA Mutational Analysis; DNA-Binding Proteins; Facies; Female; Genetic Association Studies; Heterozygote; Humans; Magnetic Resonance Imaging; Male; Mutation; Nose; Pedigree; Phenotype; Polymorphism, Single Nucleotide; Tomography, X-Ray Computed; Transcription Factors

2014
Johanson-Blizzard syndrome: dental findings and management.
    The journal of contemporary dental practice, 2013, May-01, Volume: 14, Issue:3

    Oral rehabilitation of a child with Johanson-Blizzard syndrome (JBS).. JBS is an extremely rare inherited disorder characterized by unusually small nose that appears 'beak shaped' due to the absence (aplasia) or underdevelopment (hypoplasia) of the nostrils (nasal alae), abnormally small, malformed primary (deciduous) teeth and misshapen or absent secondary (permanent) teeth, hearing disorder, hypothyroidism, dwarfism, malabsorption and mental retardation. It is sometimes described as a form of ectodermal dysplasia.. Oral findings in JBS are very obscure in the literature. The present report describes oral findings in an 8 years old boy with JBS and his oral rehabilitation.. JBS has an emotional consequence for the affected individuals at early ages. Oral rehabilitation in this case had a very positive impact on the child's mind.. Early identification and treatment of this disease is of great importance to rehabilitate the patient on functional, esthetic and psychological front.

    Topics: Anodontia; Anus, Imperforate; Cheilitis; Child; Crowns; Dental Caries; Denture, Partial, Fixed; Ectodermal Dysplasia; Facies; Growth Disorders; Hearing Loss, Sensorineural; Humans; Hypothyroidism; Incisor; Intellectual Disability; Male; Nose; Pancreatic Diseases; Pulpotomy; Space Maintenance, Orthodontic; Tongue

2013
TRPS1 codon 952 constitutes a mutational hot spot in trichorhinophalangeal syndrome type I and could be associated with intellectual disability.
    Clinical dysmorphology, 2012, Volume: 21, Issue:2

    Topics: Adult; Amino Acid Sequence; Base Sequence; Child; Child, Preschool; Codon; DNA-Binding Proteins; Facies; Female; Fingers; Gene Order; Hair Diseases; Hand Deformities, Congenital; Humans; Intellectual Disability; Langer-Giedion Syndrome; Male; Molecular Sequence Data; Mutation; Nose; Radiography; Repressor Proteins; Transcription Factors

2012
Surface facial modelling and allometry in relation to sexual dimorphism.
    Homo : internationale Zeitschrift fur die vergleichende Forschung am Menschen, 2012, Volume: 63, Issue:2

    Sexual dimorphism is responsible for a substantial part of human facial variability, the study of which is essential for many scientific fields ranging from evolution to special biomedical topics. Our aim was to analyse the relationship between size variability and shape facial variability of sexual traits in the young adult Central European population and to construct average surface models of adult males and females. The method of geometric morphometrics allowed not only the identification of dimorphic traits, but also the evaluation of static allometry and the visualisation of sexual facial differences. Facial variability in the studied sample was characterised by a strong relationship between facial size and shape of sexual dimorphic traits. Large size of face was associated with facial elongation and vice versa. Regarding shape sexual dimorphic traits, a wide, vaulted and high forehead in combination with a narrow and gracile lower face were typical for females. Variability in shape dimorphic traits was smaller in females compared to males. For female classification, shape sexual dimorphic traits are more important, while for males the stronger association is with face size. Males generally had a closer inter-orbital distance and a deeper position of the eyes in relation to the facial plane, a larger and wider straight nose and nostrils, and more massive lower face. Using pseudo-colour maps to provide a detailed schematic representation of the geometrical differences between the sexes, we attempted to clarify the reasons underlying the development of such differences.

    Topics: Europe; Eye; Facies; Female; Finite Element Analysis; Forehead; Humans; Imaging, Three-Dimensional; Male; Models, Anatomic; Nose; Sex Characteristics; Young Adult

2012
Chromosome 22q11.2 deletion syndrome in African-American patients: a diagnostic challenge.
    American journal of medical genetics. Part A, 2011, Volume: 155A, Issue:9

    Chromosome 22q11.2 deletion syndrome (22q11DS) is associated with numerous and variable clinical manifestations including conotruncal heart abnormalities, palatal anomalies, hypoparathyroidism, immune deficiency, and cognitive deficits. The clinical suspicion of this syndrome is often heightened by the presence of characteristic facial features. A previous report highlighted the under-diagnosis of this condition in African Americans, thought to be related to a paucity of typical facial features. We ascertained the largest cohort (n = 50) of African-American individuals with 22q11DS reported thus far, across five genetics centers in the United States and report on their facial and other phenotypic features. About 3/4 of our cohort has at least one dysmorphic facial feature. Auricular abnormalities, especially small ears, are the most common dysmorphic facial feature followed by nasal and ocular abnormalities. Skeletal findings are seen in about 2/3 of our cohort, higher than the typical frequency reported in 22q11DS. Cardiac anomalies, developmental delay, and palatal abnormalities are seen at a lower frequency in our cohort. Thus, it is evident that the features traditionally associated with 22q11DS are difficult to recognize in African-American individuals with this syndrome, due to both altered frequencies of major anomalies and a non-classic facial appearance. Therefore, a high index of suspicion is needed to recognize 22q11DS in African-American individuals.

    Topics: Abnormalities, Multiple; Adolescent; Adult; Aged; Black or African American; Child; Child, Preschool; Chromosome Deletion; Chromosomes, Human, Pair 22; Cognition Disorders; Cohort Studies; Ear; Eye Abnormalities; Facies; Female; Heart Defects, Congenital; Humans; Hypoparathyroidism; Immune System Diseases; Infant; Male; Middle Aged; Nose; Phenotype; Retrospective Studies

2011
Prenatal and postnatal growth retardation, depressed nasal tip, oligodactyly, and mental retardation.
    Clinical dysmorphology, 2010, Volume: 19, Issue:1

    Topics: Abnormalities, Multiple; Child, Preschool; Developmental Disabilities; Facies; Female; Fetal Growth Retardation; Foot Deformities, Congenital; Growth Disorders; Humans; Intellectual Disability; Nose

2010
Transnasal endoscopic management of frontal sinus mucopyocele with orbital and frontal lobe displacement as minimally invasive surgery.
    Journal of neurosurgical sciences, 2010, Volume: 54, Issue:1

    An obstructive condition of paranasal sinus secondary to surgery, trauma, flogosis or neoplasms could become a predisposing state to the occurrence of mucocele. Frontal sinus mucoceles, which can turn into mucopyoceles due to bacterial super-infections, may invade the orbit, erode the skull base and displace respectively the ocular bulb and the frontal lobe. The surgical treatment of this disease ranges from mini-invasive approaches, such as the transnasal endoscopic marsupialization, to a more aggressive surgery such as osteoplasty through coronal flap and frontal sinus exclusion by fat tissue.. From 2005 to 2007, we treated with transnasal endoscopic surgery 10 patients, affected by frontal sinus mucopyoceles displacing both the ocular bulb and the frontal lobe.. In the present study, we report the clinical and diagnostic features of this series, the treatment modalities and the achieved results and confirm the effectiveness of the mini-invasive transnasal endoscopic technique in the treatment of the frontal sinus mucopyocele.

    Topics: Adult; Aged; Endoscopy; Facies; Female; Frontal Lobe; Frontal Sinus; Humans; Magnetic Resonance Imaging; Male; Middle Aged; Minimally Invasive Surgical Procedures; Mucocele; Nose; Orbit; Paranasal Sinus Diseases; Retrospective Studies; Surgical Flaps; Tomography, X-Ray Computed

2010
Nonsyndromic alar clefts: report of five Brazilian patients.
    American journal of medical genetics. Part A, 2009, Volume: 149A, Issue:12

    Nonsyndromic alar clefts are rare and they range from a small notch to variable size of clefts of the nasal ala. Usually they are restricted to the alar region, but other minor anomalies such as midline nasal sinuses and small midline or "northbound" clefts can be present. To date all reported cases of nonsyndromic alar clefts have been sporadic. Here we report on five new cases of isolated and nonsyndromic alar clefts.

    Topics: Brazil; Child, Preschool; Facies; Female; Humans; Infant; Male; Nose

2009
Sonographic diagnosis of fetal malformations associated with mycophenolate mofetil exposure in utero.
    American journal of obstetrics and gynecology, 2008, Volume: 199, Issue:2

    Mycophenolate mofetil has been shown to have teratogenic properties in animal studies and clinical reports. We report a case of major fetal malformation likely caused by mycophenolate mofetil exposure in utero in a 36 year old patient with systemic lupus erythematosus. The diagnosis was made by ultrasonography at 22 weeks of gestation.

    Topics: Abnormalities, Drug-Induced; Abnormalities, Multiple; Adult; Ear, External; Facies; Female; Fetus; Humans; Imaging, Three-Dimensional; Immunosuppressive Agents; Lupus Erythematosus, Systemic; Mycophenolic Acid; Nose; Pregnancy; Pregnancy Complications; Ultrasonography, Prenatal

2008
Pai syndrome: report of seven South American patients.
    American journal of medical genetics. Part A, 2007, Dec-15, Volume: 143A, Issue:24

    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

2007
A newly recognized syndrome of Marfanoid habitus; long face; hypotelorism; long, thin nose; long, thin hands and feet; and a specific pattern of language and learning disabilities.
    American journal of medical genetics. Part A, 2007, Dec-15, Volume: 143A, Issue:24

    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

2007
Two siblings with an unusual nasal malformation: further instances of craniorhiny?
    American journal of medical genetics. Part A, 2007, Dec-15, Volume: 143A, Issue:24

    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

2007
The complications of giant titanium implants in nasal reconstruction.
    Journal of plastic, reconstructive & aesthetic surgery : JPRAS, 2006, Volume: 59, Issue:1

    We present two cases where a large titanium implant has been used in nasal reconstruction without regard to the basic principles and current philosophy in reconstructive techniques. A full thickness nasal defect requires reconstruction with an inner lining, scaffolding and external skin. Autogenous grafts are preferable particularly when they are used for support or their insertion creates tension on the overlying soft tissue. We report serious complications that result from a disregard to these basic principles in two patients following the insertion of giant titanium nasal implants along with their management.

    Topics: Adult; Epistaxis; Facies; Female; Humans; Middle Aged; Nose; Prostheses and Implants; Prosthesis Failure; Rhinoplasty; Titanium

2006
Abnormal variations in the facial soft tissues of adult uremic patients on chronic dialysis.
    The Angle orthodontist, 2005, Volume: 75, Issue:3

    Renal osteodystrophy is a common complication of uremic patients, mainly when they are in long-term regular dialysis treatment. The craniofacial skeleton is one of the peculiar targets of renal osteodystrophy, the more dramatic pattern of which is a form of leontiasis. To assess facial deformities in uremic conditions and to understand the possible relation with hyperparathyroidism, the three-dimensional coordinates of 50 soft tissue facial landmarks were obtained by an electromagnetic digitizer in 10 male and 10 female patients (aged 53-81 years) with chronic renal insufficiency and regular dialysis treatment. Similar three-dimensional coordinates were also collected for 34 healthy individuals of the same age, ethnicity, and sex. From the landmarks, facial distances, angles, and volumes were calculated according to a geometrical model of the face. Data were compared with those collected in the normal subjects by computing z-scores. Facial volumes of the chronic renal insufficiency patients were significantly larger than those of the control subjects. The increment was particularly evident in the facial middle third (maxilla), leading to a significant inversion of the mandibular-to-maxillary ratio. The lips tended to be more prominent (reduced interlabial angle). Some of these facial modifications (facial and nose height, maxillary dimensions, mandibular shape) were significantly related to the clinical characteristics of the patients (duration of renal insufficiency, duration of dialysis, parathormone (PTH) plasma levels). In regular dialysis treatment, some of the facial modifications are related to hyperparathyroidism, which supports the need for a strict metabolic control also in the early phase of uremia.

    Topics: Aged; Aged, 80 and over; Case-Control Studies; Cephalometry; Chronic Kidney Disease-Mineral and Bone Disorder; Face; Facies; Female; Humans; Hyperparathyroidism; Kidney Failure, Chronic; Male; Middle Aged; Nose; Parathyroid Hormone; Renal Dialysis; Time Factors; Uremia; Vertical Dimension

2005
Facial characterization of infants with cleft lip and palate using a three-dimensional capture technique.
    The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association, 2004, Volume: 41, Issue:1

    To characterize the soft tissue features of infants with unilateral cleft lip (UCL) and unilateral complete cleft lip and palate (UCLP) prior to primary surgery and compare with noncleft controls.. Prospective controlled capture of the facial morphology of infants using a noninvasive three-dimensional stereophotogrammetry method.. 23 children with presurgical cleft: 11 UCL (M = 6, F = 5); 12 UCLP (M = 9, F = 3), and 21 noncleft controls (M = 7, F = 14) were imaged at approximately 3 months of age (range 10 to 16 weeks).. Accurate, repeatable quantification of facial soft tissues in infants with clefts prior to surgery.. Significant differences (p <.05) were found between the UCLP group and UCL and control groups in anatomical and soft nose width, cleft-side alar wing length, and nasal tip horizontal displacement. Both cleft groups were significantly different from controls and from each other in cleft-side nostril dimensions, alar wing angulation, columella angle, and alar base to corner of mouth dimension; alar base width; and soft tissue defect in nose and the lip and philtrum length bordering the cleft. Significant differences between clefts and controls were identified in the nostril and philtrum on the noncleft side.. The use of children with UCL as controls for UCLP studies is inappropriate. This technique overcame the limitations of direct measurement of infant faces to aid the surgeon in the planning and subsequent re-evaluation of surgical rationale.

    Topics: Analysis of Variance; Case-Control Studies; Cephalometry; Cleft Lip; Cleft Palate; Face; Facies; Female; Humans; Imaging, Three-Dimensional; Infant; Male; Nose; Photogrammetry; Reference Values; Reproducibility of Results

2004
Migraine prodrome: a nose on a face.
    Lancet (London, England), 2004, Feb-14, Volume: 363, Issue:9408

    Topics: Adult; Dopamine Antagonists; Facies; Female; Flushing; Humans; Metoclopramide; Migraine with Aura; Nose

2004
Trisomy 22 with unusual phenotype.
    Indian pediatrics, 2003, Volume: 40, Issue:4

    Topics: Abnormalities, Multiple; Child, Preschool; Chromosomes, Human, Pair 22; Facies; Humans; Male; Nose; Trisomy

2003
Surgical results of primary lip repair using the triangular flap method for the treatment of complete unilateral cleft lip and palate: a three-dimensional study in infants to four-year-old children.
    The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association, 2002, Volume: 39, Issue:5

    To evaluate morphological problems for children with complete unilateral cleft lip and palate (UCLP).. A cross-sectional study was performed on 46 patients with complete UCLP at Osaka University Dental Hospital.. The method was applied to three groups of children with UCLP (8 4-month-old infants, 18 1.5-year-old children, and 20 4-year-old children).. The three-dimensional coordinates of facial landmarks were extracted automatically from XYZ data sets and from photo images produced by an optical surface scanner.. The intercanthal distance, nose width, and mouth width were closer to those of normal children in the older group. Deviation of the columella toward the noncleft side was smaller in the 4-year-old group. The angle of the nasal tip was large in all groups. Asymmetry of the ala was conspicuous at the upper part of the nose in the vertical dimension. Asymmetry of the nostril was observed in the vertical dimension and in the anteroposterior dimension in the 4-year-old group. The angle of the Cupid's bow was obtuse on the noncleft side, and the bottom of the Cupid's bow deviated toward the cleft side. The Cupid's bow was longer on the noncleft side. Protrusion of the vermilion was poor in all groups.

    Topics: Cephalometry; Child, Preschool; Cleft Lip; Cleft Palate; Eyelids; Facies; Forehead; Humans; Imaging, Three-Dimensional; Infant; Lip; Nose; Oral Surgical Procedures; Surgical Flaps; Treatment Outcome

2002
Maxillonasal dysplasia (Binder syndrome): a lateral cephalometric assessment.
    Australian orthodontic journal, 2002, Volume: 18, Issue:2

    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

2002
Treatment of Setleis syndrome. Case report.
    Scandinavian journal of plastic and reconstructive surgery and hand surgery, 2001, Volume: 35, Issue:1

    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

2001
The effects of chronic absence of active nasal respiration on the growth of the skull: a pilot study.
    American journal of orthodontics and dentofacial orthopedics : official publication of the American Association of Orthodontists, its constituent societies, and the American Board of Orthodontics, 2000, Volume: 117, Issue:6

    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

2000
Autosomal recessive multiple pterygium syndrome: a new variant?
    American journal of medical genetics, 2000, Jul-31, Volume: 93, Issue:3

    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

2000
MCA/MR syndrome with severe pre- and postnatal growth retardation, deep mental retardation, distinct facial appearance with nasal hypoplasia, cleft palate and retino-choroidal coloboma in two unrelated female patients.
    Genetic counseling (Geneva, Switzerland), 2000, Volume: 11, Issue:4

    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

2000
Development of the olfactory nerve: its relationship to the craniofacies.
    Teratology, 1995, Volume: 51, Issue:4

    Although absence of the olfactory bulbs is a relatively common occurrence seen in holoprosencephaly, in Kallman syndrome, and in a number of malformation syndromes, the extent to which it determines olfactory nerve development, as well as the part it plays in the morphogenesis of the nasal structures, is unknown. Cases of arhinencephaly ascertained at autopsy were studied in an effort to better understand the relationships between the olfactory nerve, bulb, and facies. Based on these studies, it is concluded that both olfactory receptor cells and olfactory nerves are present in arhinencephaly, that the olfactory nerves did not make contact with the brain in these cases, that the presence of olfactory nerves is independent of the severity of the central nervous system malformation, and that the shape of the nasal structures is not dependent on the presence of the olfactory nerve.

    Topics: Animals; Facies; Female; Holoprosencephaly; Humans; Infant; Nerve Tissue Proteins; Nose; Olfactory Bulb; Olfactory Marker Protein; Olfactory Mucosa; Olfactory Nerve; Olfactory Pathways; Phosphopyruvate Hydratase; Pregnancy; Rats

1995