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伴有韧带松弛和发育迟缓的先天性皮肤松弛综合征:来自土耳其的一对兄妹病例报告

Syndrome of congenital cutis laxa with ligamentous laxity and delayed development: report of a brother and sister from Turkey.

作者信息

Oğur G, Yüksel-Apak M, Demiryont M

机构信息

Department of Genetics, University of Istanbul, Turkey.

出版信息

Am J Med Genet. 1990 Sep;37(1):6-9. doi: 10.1002/ajmg.1320370103.

Abstract

Congenital cutis laxa with ligamentous laxity and delayed development has recently been defined as a distinct entity of autosomal recessive inheritance. Here we report on 2 new cases of this syndrome. With severe manifestations in the male, X-linked dominant inheritance is discussed. Results of ultrastructural studies of skin and biochemical studies are reported.

摘要

伴有韧带松弛和发育迟缓的先天性皮肤松弛症最近被定义为一种常染色体隐性遗传的独特病症。在此,我们报告该综合征的2例新病例。鉴于男性患者有严重表现,故讨论了X连锁显性遗传。报告了皮肤超微结构研究和生化研究的结果。

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