默比厄斯综合征的遗传学
Genetics of Möbius syndrome.
作者信息
Baraitser M
出版信息
J Med Genet. 1977 Dec;14(6):415-7. doi: 10.1136/jmg.14.6.415.
Abstract
A study of the sibs and parents of 15 children diagnosed as having the Möbius syndrome suggests that the inclusion of primary skeletal defects as obligatory in the diagnosis of the syndrome helps to exclude the high risk monogenic disorders of muscle and anterior horn cell, which present with a Möbius-like facies in infancy.
摘要
一项针对15名被诊断患有莫比乌斯综合征儿童的兄弟姐妹及父母的研究表明，在该综合征的诊断中纳入原发性骨骼缺陷作为必要条件，有助于排除那些在婴儿期表现出类似莫比乌斯面容的肌肉和前角细胞的高风险单基因疾病。
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