TOWNES-BROCKS SYNDROME

被引：16

作者：

KONIG, R ^{[1
]}

SCHICK, U ^{[1
]}

FUCHS, S ^{[1
]}

机构：

[1] STADTKRANKENHAUS HANAU,KINDERKLIN,W-6450 HANAU 1,GERMANY

来源：

EUROPEAN JOURNAL OF PEDIATRICS | 1990年 / 150卷 / 02期

关键词：

Ear malformations; Imperforate anus; Pre-axial hexadactyly; Townes-Brocks syndrome; VACTERL association;

D O I：

10.1007/BF02072048

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

A 2-week-old male is presented with the clinical findings of the autosomal dominant Townes-Brocks syndrome in an otherwise unaffected family. The patient showed the full spectrum of anomalies including imperforate anus, perineal fistula, triphalangeal thumb, preaxial polydactyly, pre-auricular tags, and microtia. As there is considerable overlap with the VACTERL association, careful examination of the parents is necessary with regard to the genetic counselling risk. © 1990 Springer-Verlag.

引用

页码：100 / 103

页数：4

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