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[多指(趾)畸形合并复杂心脏病。同一家庭中的3例报告]

[Polysyndactyly with complex cardiopathy. Apropos of 3 cases in the same family].

作者信息

Bonneau J C, Moirot H, Bastard C, Petitcolas J, Ropartz C

出版信息

J Genet Hum. 1983 Jun;31(2):93-105.

PMID:6313864
Abstract

This study deals with a family where three successive children presenting with a complicated polymalformative syndrome, died. The first child, a boy, had atrial and ventricular septal defect. The second and third children, both females, had cardiac abnormalities with a single ventricle with common auriculo-ventricular valve. Each case was associated with low ear insertion and first toe bilateral polysyndactyly. Familial inquiry showed neither consanguinity nor similar cases in relatives and ancestors within three generations. This polymalformative syndrome could be genetically determined.

摘要

本研究涉及一个家庭,该家庭中有三个连续出生的患有复杂多畸形综合征的孩子死亡。第一个孩子是男孩,患有房间隔和室间隔缺损。第二个和第三个孩子都是女孩,有心脏异常,表现为单心室和共同房室瓣。每个病例都伴有低耳位和双侧第一趾多指畸形。家族调查显示三代以内亲属和祖先中既无近亲结婚情况,也无类似病例。这种多畸形综合征可能是由基因决定的。

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