一种明显的新的常染色体隐性综合征，伴有面部畸形、巨头畸形、近视和丹迪-沃克畸形。
An apparently new autosomal recessive syndrome with facial dysmorphism, macrocephaly, myopia and Dandy-Walker malformation.
作者信息
Buttiens M, Fryns J P, van den Berghe H
机构信息
Centre for Human Genetics, University of Leuven, Belgium.
出版信息
Clin Genet. 1989 Dec;36(6):451-55. doi: 10.1111/j.1399-0004.1989.tb03375.x.
Abstract
In this report we describe an apparently new MCA-MR syndrome with Dandy-Walker malformation in three severely mentally retarded siblings born to normal, non-consanguineous parents. In addition, they presented macrocephaly, facial dysmorphism, extreme myopia and brachytelephalangy with short and broad finger-nails.
摘要
在本报告中，我们描述了一种明显新型的大脑中动脉-磁共振成像（MCA-MR）综合征，该综合征伴有丹迪-沃克畸形，发生在三名由正常非近亲父母所生的严重智力发育迟缓的兄弟姐妹身上。此外，他们还表现出巨头畸形、面部畸形、高度近视以及短指（趾）畸形，指甲短而宽。
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