[汤姆斯-布罗克斯综合征。病例报告及文献复习]
[Townes-Brocks syndrome. Case report and review of the literature].
作者信息
Kotzot D, Lorenz P, Bieber A, Gröbe H
机构信息
Institut für Humangenetik, Universität Erlangen-Nürnberg.
出版信息
Monatsschr Kinderheilkd. 1992 Jun;140(6):343-5.
PMID:1640945
Abstract
We report on a 14 months old Turkish girl with bilateral triphalangeal thumb and preaxial hexadaktyly on her left hand, bilaterally missing third toes and "Satyr-ears" as typical features of Townes-Brocks Syndrome. Besides reviewing all previous publications we discuss frequency and significance of all features--especially of anorectal malformations and the third missing toe.
摘要
我们报告了一名14个月大的土耳其女孩，她患有双侧三指节拇指和左手轴前多指畸形，双侧第三脚趾缺失，并有“萨梯耳耳”，这些是汤姆斯-布罗克斯综合征的典型特征。除了回顾所有先前的出版物，我们还讨论了所有特征的发生率和意义，特别是肛门直肠畸形和第三脚趾缺失的情况。
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引用本文的文献
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