E型短指畸形与II型房间隔缺损的家族性组合。

Familial combination of brachydactyly, type E and atrial septal defect, type II.

作者信息

Czeizel A, Göblyös P

机构信息

Department of Human Genetics and Teratology, National Institute of Hygiene, Budapest, Hungary.

出版信息

Eur J Pediatr. 1989 Nov;149(2):117-9. doi: 10.1007/BF01995860.

DOI:10.1007/BF01995860

PMID:2591402

Abstract

Nine members of a three generation family were affected with the combination of brachydactyly, type E and heart defect, mainly atrial septal defect, type II. A similar malformation pattern of autosomal dominant origin has not previously been delineated.

摘要

一个三代家庭的九名成员患有E型短指症和心脏缺陷（主要是II型房间隔缺损）的组合。以前尚未描述过具有常染色体显性遗传起源的类似畸形模式。