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家族性交叉多指(趾)畸形

Familial crossed polysyndactyly.

作者信息

Goldstein D J, Kambouris M, Ward R E

机构信息

Lilly Research Laboratories, Eli Lilly and Company, Indianapolis, IN 46285.

出版信息

Am J Med Genet. 1994 Apr 15;50(3):215-23. doi: 10.1002/ajmg.1320500302.

Abstract

We have observed a distinct form of "crossed" polysyndactyly in 6 generations of a family with 5 affected persons, all males. The polydactyly is postaxial in the hands and preaxial in the feet. Syndactyly in the hands is observed in some relatives, while syndactyly in the feet is present bilaterally in all affected relatives. This seems to be an autosomal dominant trait with male to male transmission over 3 generations by examination and an additional 3 generations by history. This form of polysyndactyly could not be readily categorized by the existing classification by Temtamy and McKusick [1978: BD OAS XIV 6:363-392]. We review and expand the present classification of polydactyly and syndactyly syndromes.

摘要

我们在一个家族的6代人中观察到一种独特的“交叉性”多指畸形,该家族中有5名患者,均为男性。手部多指畸形位于轴后,足部多指畸形位于轴前。部分亲属存在手部并指畸形,而所有受累亲属双侧足部均存在并指畸形。通过检查发现,这似乎是一种常染色体显性性状,在3代人中存在男性对男性的传递,根据家族史推断另外3代也存在这种传递。这种多指畸形的形式无法轻易按照Temtamy和McKusick [1978年:《出生缺陷原始系列》第十四卷6期:363 - 392页] 的现有分类进行归类。我们回顾并扩展了目前多指畸形和并指畸形综合征的分类。

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