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两个同父异母(或同母异父)兄弟姐妹患有缺指(趾)畸形、唇腭裂。

Ectrodactyly, cleft lip and palate in two half sibs.

作者信息

Lewis M B, Pashayan H M

出版信息

J Med Genet. 1981 Oct;18(5):394-6. doi: 10.1136/jmg.18.5.394.

Abstract

Two half sibs with bilateral complete cleft lip and complete cleft of the palate associated with ectrodactyly of the hands and feet, born to the same phenotypically normal mother, are reported. The younger of the two sibs also has dominantly inherited tremors (also referred to as essential heredofamilial tremors) as did her biological father. Possible genetic causes to explain the recurrence of the facial and limb malformations in the half sibs with additional central nervous system malformations in the younger sib are discussed.

摘要

据报道,同一表型正常的母亲生育了两个半同胞,他们均患有双侧完全性唇裂和完全性腭裂,并伴有手足缺指(趾)畸形。两个半同胞中年龄较小的那个还患有显性遗传震颤(也称为特发性家族性震颤),她的生父也有这种疾病。本文讨论了可能的遗传原因,以解释这两个半同胞中面部和肢体畸形的复发情况,以及年龄较小的半同胞还伴有中枢神经系统畸形的现象。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d2db/1048766/2a1b78b185c3/jmedgene00121-0073-a.jpg

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