[ Holt - Oram综合征。2例家族性病例的综述与报告]
[Holt-Oram syndrome. Review and report of 2 familial cases].
作者信息
Oliveira M, Agapito A, Rosário L, Galrinho A, da Silva N, Prates A, Antunes A M
机构信息
Serviço de Cardiologia, Hospital de Santa Marta, Lisboa.
出版信息
Rev Port Cardiol. 1994 Dec;13(12):929-32, 893.
PMID:7873223
Abstract
In 1960 Holt and Oram reported a family in which upper extremity malformations were associated with a secundum atrial septal defect. Since then, more than 200 cases have been reported with a wide spectrum of phenotypes. The authors present the cases of one mother and daughter with Holt-Oram Syndrome (SHO).
摘要
1960年，霍尔特（Holt）和奥勒姆（Oram）报道了一个家族，其中上肢畸形与继发孔型房间隔缺损有关。从那时起，已经报道了200多例具有广泛表型的病例。作者介绍了一位患有霍尔特-奥勒姆综合征（SHO）的母亲和女儿的病例。
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