Townes-Brocks syndrome or hemifacial microsomia-VACTERL phenotype?
نویسندگان
چکیده
منابع مشابه
Townes-Brocks Syndrome
Disease characteristics. Townes-Brocks syndrome (TBS) is characterized by the triad of imperforate anus (82%), dysplastic ears (88%) (overfolded superior helices and preauricular tags) frequently associated with sensorineural and/or conductive hearing impairment (65%), and thumb malformations (89%) (triphalangeal thumbs, duplication of the thumb (preaxial polydactyly), and rarely hypoplasia of ...
متن کاملReview article Townes-Brocks syndrome
Townes-Brocks syndrome (TBS) is an autosomal dominant disorder with multiple malformations and variable expression. Major findings include external ear anomalies, hearing loss, preaxial polydactyly and triphalangeal thumbs, imperforate anus, and renal malformations. Most patients with Townes-Brocks syndrome have normal intelligence, although mental retardation has been noted in a few. (J Med Ge...
متن کاملTownes-Brocks syndrome with hypothyroidism.
Townes-Brocks syndrome (TBS) is an autosomal dominant disorder with multiple malformations and variable expression. Major findings include external ear anomalies, hearing loss, limb deformity, imperforate anus, and renal malformations. Hypothyroidism is not a recognized feature of TBS. We are reporting a case of TBS with hypothyroidism, a rare association.
متن کاملHemifacial microsomia.
Hemifacial microsomia (HFM) is a condition in which the lower half of one side of the face is underdeveloped and does not grow in a normal pattern. After clefts, this is the second most common facial birth defect. Etiology of HFM is unknown, but prenatal exposures of some drugs and genetic abnormalities may be associated with the condition. Diagnosis and treatment of HFM is challenging due to a...
متن کاملMolecular analysis of SALL1 mutations in Townes-Brocks syndrome.
Townes-Brocks syndrome (TBS) is an autosomal dominantly inherited malformation syndrome characterized by anal, renal, limb, and ear anomalies. Recently, we showed that mutations in the putative zinc finger transcription factor gene SALL1 cause TBS. To determine the spectrum of SALL1 mutations and to investigate the genotype-phenotype correlations in TBS, we examined 23 additional families with ...
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ژورنال
عنوان ژورنال: Brazilian Journal of Genetics
سال: 1996
ISSN: 0100-8455
DOI: 10.1590/s0100-84551996000400018