近亲结婚父母所生孩子的眼科、骨骼和心脏异常：一种新综合征？
Ophthalmological, skeletal, and cardiac abnormalities in sibs born to consanguineous parents: a new syndrome?
作者信息
dos Santos R de C, Castro N H, Ferraz O P, Walter-Moura J, Mustachi Z, Pagnan N A, Gollop T R
机构信息
Serviço de Genética, Hospital Infantil Darcy Vargas, São Paulo, Brazil.
出版信息
Am J Med Genet. 1992 Aug 1;43(6):946-8. doi: 10.1002/ajmg.1320430608.
We report on a sibship from a consanguineous couple consisting of one boy with anophthalmia, one boy with buphthalmos and multiple congenital skeletal, muscle, and cardiac abnormalities, and a stillborn girl with anophthalmia and cardiac and skeletal abnormalities. A possible new syndrome of autosomal recessive inheritance and variable expressivity is discussed, comparing this report with others.
我们报告了一对近亲夫妇的一个家系，其中一个男孩患有无眼症，一个男孩患有牛眼症以及多种先天性骨骼、肌肉和心脏异常，还有一个死产女婴患有无眼症以及心脏和骨骼异常。本文将该报告与其他报告进行比较，讨论了一种可能的常染色体隐性遗传且表现度可变的新综合征。
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