Townes-Brocks Syndrome in an Infant with Familial Imperforate Anus
نویسندگان
چکیده
منابع مشابه
Townes-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 کاملTownes-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 کاملAn accessory limb with an imperforate anus
Congenital accessory limbs are very rare anomalies with many causative factors. We describe the case of a 1-day-old female neonate-born to a healthy, 27-year-old mother-who presented with an accessory limb (foot) attached to the buttock and an imperforate anus. We also provide a review of the relevant literature.
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: Neonatology Today
سال: 2020
ISSN: 1932-7137,1932-7129
DOI: 10.51362/neonatology.today/20201115119698