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一个家族三代人中先天性拇指内收合并瓦登伯革综合征:一种未被描述的先天性异常综合征。

Congenital clasped thumb combined with Waardenburg syndrome in three generations of one family: an undescribed congenital anomalies complex.

作者信息

Senrui H

出版信息

J Pediatr Orthop. 1984 Aug;4(4):472-6. doi: 10.1097/01241398-198408000-00017.

Abstract

Four cases of congenital clasped thumb with Waardenburg syndrome in three generations of one family (three males and one female) are presented. The combination of these congenital anomalies has not been reported previously in the literature and appears to be transmitted as an autosomal dominant trait with variable expressivity.

摘要

本文报告了一个家族三代人中的4例先天性拇指内收合并瓦登伯格综合征患者(3男1女)。这些先天性异常的组合在以往文献中未见报道,似乎以常染色体显性性状伴可变表达形式遗传。

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