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一种罕见的家族性尖头并指(趾)畸形形式。

An unusual form of familial acrocephalosyndactyly.

作者信息

Young I D, Harper P S

出版信息

J Med Genet. 1982 Aug;19(4):286-8. doi: 10.1136/jmg.19.4.286.

Abstract

A family is described in which at least six members have an unusual form of acrocephalosyndactyly showing autosomal dominant inheritance. The most characteristic feature in the more severely affected individuals is duplication of the distal phalanx of the hallux. Review of family photographs suggests that the cosmetic outcome in apparently affected infants may be much better than anticipated.

摘要

一个家族中至少有六名成员患有头并指(趾)畸形的一种罕见形式,呈常染色体显性遗传。病情较重的个体最典型的特征是拇趾远节指骨重复。查看家族照片发现,表面上受影响婴儿的美容效果可能比预期好得多。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9643/1048895/36796b84df9d/jmedgene00114-0051-a.jpg

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