小头畸形、小眼畸形、白内障和关节挛缩综合征。
Syndromes of microcephaly, microphthalmia, cataracts, and joint contractures.
作者信息
Winter R M, Donnai D, Crawfurd M D
出版信息
J Med Genet. 1981 Apr;18(2):129-33. doi: 10.1136/jmg.18.2.129.
Abstract
Three infants are described, one with the Neu-Laxova syndrome and two with the cerebro-oculo-facio-skeletal (COFS) syndrome. The relationship between these two syndromes is discussed in the light of the present cases and others in published reports.
摘要
本文描述了三名婴儿，一名患有努-拉索瓦综合征，两名患有脑-眼-面-骨骼（COFS）综合征。根据本病例及已发表报告中的其他病例，对这两种综合征之间的关系进行了讨论。
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