法伊弗综合征遗传咨询中的陷阱
Pitfalls of genetic counselling in Pfeiffer's syndrome.
作者信息
Baraitser M, Bowen-Bravery M, Saldaña-Garcia P
出版信息
J Med Genet. 1980 Aug;17(4):250-6. doi: 10.1136/jmg.17.4.250.
Abstract
A family with Pfeiffer's syndrome is presented in which members of two generations showed only partial but relevant syndactyly before a child was born, in the third generation, with the full acrocephalosyndactyly syndrome.
摘要
本文报告了一个患有 Pfeiffer 综合征的家族，其中两代成员在一名第三代儿童出生前仅表现出部分但相关的并指畸形，而该第三代儿童患有完全性尖头并指畸形综合征。
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