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家族性胸大肌、前锯肌和背阔肌缺失。

Familial absence of the pectoralis major, serratus anterior, and latissimus dorsi muscles.

作者信息

David T J, Winter R M

出版信息

J Med Genet. 1985 Oct;22(5):390-2. doi: 10.1136/jmg.22.5.390.

Abstract

Congenital absence of shoulder girdle muscles is described in three generations of a family. The proband, a 3 year old boy, had absence of the sternocostal head of the right pectoralis major. His father had absence of the left serratus anterior and part of the left latissimus dorsi and his paternal grandfather had absence of the lower two-thirds of the left pectoralis major, with absence of the left serratus anterior and latissimus dorsi muscles. The condition is probably the result of a dominant gene. These observations show that absence of the pectoralis major is part of a wider spectrum of shoulder girdle defects. Where genetic advice is sought by persons with apparently sporadic absence of the pectoralis major, examination of the relatives is necessary.

摘要

一个家族的三代人被描述为患有先天性肩带肌缺失。先证者是一名3岁男孩,其右胸大肌胸肋头缺失。他的父亲左前锯肌和部分左背阔肌缺失,他的祖父左胸大肌下三分之二缺失,同时左前锯肌和背阔肌也缺失。这种情况可能是由显性基因导致的。这些观察结果表明,胸大肌缺失是更广泛的肩带缺陷谱的一部分。对于胸大肌明显散发性缺失的患者寻求遗传咨询时,有必要对其亲属进行检查。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f79e/1049486/4256286daf8a/jmedgene00097-0063-a.jpg

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