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English Wikipedia
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Townes-Brocks syndrome Powell CM; Michaelis RCJ Med Genet 1999[Feb]; 36 (2): 89-93Townes-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.|Abnormalities, Multiple/*diagnosis/genetics[MESH]|Anus, Imperforate/genetics[MESH]|Chromosomes, Human, Pair 16/*genetics[MESH]|Developmental Disabilities/genetics[MESH]|Diagnosis, Differential[MESH]|Ear, External/abnormalities[MESH]|Eye Abnormalities/genetics[MESH]|Female[MESH]|Genetic Variation[MESH]|Hearing Loss, Sensorineural/genetics[MESH]|Heart Defects, Congenital/diagnosis[MESH]|Humans[MESH]|Male[MESH]|Phenotype[MESH]|Polydactyly/genetics[MESH]|Scoliosis/genetics[MESH]|Syndrome[MESH]|Transcription Factors/genetics[MESH]|Urogenital Abnormalities/genetics[MESH] |
