汤姆斯-布罗克斯综合征
Townes-Brocks syndrome.
作者信息
Powell C M, Michaelis R C
机构信息
Department of Pediatrics, The University of North Carolina at Chapel Hill, 27599-7220, USA.
出版信息
J Med Genet. 1999 Feb;36(2):89-93.
Abstract
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.
摘要
汤姆斯-布罗克斯综合征（TBS）是一种具有多种畸形和可变表现的常染色体显性疾病。主要表现包括外耳畸形、听力丧失、轴前多指（趾）畸形和拇指三节指骨、肛门闭锁以及肾脏畸形。大多数汤姆斯-布罗克斯综合征患者智力正常，不过也有少数患者存在智力发育迟缓的情况。
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