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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本文引用的文献
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Townes-Brocks and Pendred syndrome in the same patient.同一患者同时患有Townes-Brocks综合征和Pendred综合征。
Am J Med Genet. 1998 May 26;77(4):330-1.
2
Mutations in the SALL1 putative transcription factor gene cause Townes-Brocks syndrome.SALL1假定转录因子基因突变会导致汤姆斯-布罗克斯综合征。
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Townes-Brocks syndrome presenting as end stage renal failure.表现为终末期肾衰竭的汤姆斯-布罗克斯综合征
Clin Dysmorphol. 1997 Jan;6(1):57-60.
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Limb anomalies in DiGeorge and CHARGE syndromes.迪乔治综合征和CHARGE综合征中的肢体异常。
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Isolation, characterization, and organ-specific expression of two novel human zinc finger genes related to the Drosophila gene spalt.与果蝇基因spalt相关的两个新型人类锌指基因的分离、表征及器官特异性表达
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[The Townes-Brocks syndrome].[汤姆斯-布罗克斯综合征]
An Esp Pediatr. 1996 Apr;44(4):364-6.
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Townes-Brocks syndrome associated with mental retardation.伴有智力障碍的汤姆斯-布罗克斯综合征。
Am J Med Genet. 1996 Jan 11;61(2):191-2. doi: 10.1002/ajmg.1320610203.
8
Three-generation family with resemblance to Townes-Brocks syndrome and Goldenhar/oculoauriculovertebral spectrum.与汤姆斯-布罗克斯综合征和戈尔登哈综合征/眼耳脊椎综合征相似的三代家族。
Am J Med Genet. 1996 Jan 11;61(2):134-9. doi: 10.1002/(SICI)1096-8628(19960111)61:2<134::AID-AJMG6>3.0.CO;2-X.
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VACTERL with hydrocephalus: spontaneous chromosome breakage and rearrangement in a family showing apparent sex-linked recessive inheritance.伴有脑积水的VACTERL综合征：一个显示明显X连锁隐性遗传的家族中的自发染色体断裂和重排
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