三例同胞兄弟姐妹的孤立性膈肌缺损

Isolated diaphragmatic defect in three sibs.

作者信息

Toriello H V, Landenburger G, Kapur S J, Higgins J V

机构信息

Blodgett Memorial Medical Center, Genetics/Birth Defects/Neurology Clinic, Grand Rapids, MI 49506.

出版信息

Am J Med Genet Suppl. 1986;2:177-81. doi: 10.1002/ajmg.1320250621.

DOI:10.1002/ajmg.1320250621

PMID:3146288

Abstract

We describe three sisters with unilateral agenesis of the diaphragm. No other anomalies were present. As a developmental field defect, diaphragmatic defect is, by definition, causally heterogeneous, and may be seen in several syndromes. Whereas most isolated diaphragmatic defects are likely multifactorially determined, monogenic forms seem to exist.

摘要

我们描述了三例患有单侧膈肌发育不全的姐妹。未发现其他异常。作为一种发育性区域缺陷，膈肌缺陷从定义上讲病因是异质性的，可能在几种综合征中出现。虽然大多数孤立性膈肌缺陷可能是多因素决定的，但似乎也存在单基因形式。