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先天性皮肤松弛伴生长和运动发育迟缓:一种具有男性致死性的隐性结缔组织疾病。

Congenital cutis laxa with retardation of growth and motor development: a recessive disorder of connective tissue with male lethality.

作者信息

Allanson J, Austin W, Hecht F

出版信息

Clin Genet. 1986 Feb;29(2):133-6. doi: 10.1111/j.1399-0004.1986.tb01236.x.

Abstract

A syndrome of cutis laxa, ligamentous laxity and delayed motor development has been reported in 13 children. All are girls. Four are from Saudi Arabia. Another Saudi Arabian girl, the product of a consanguineous union, is described with intrauterine growth retardation, delayed closure of the anterior fontanel, slow motor development, cutis laxa and ligamentous laxity. The syndrome appears to be an autosomal recessive disorder of connective tissue, with male lethality.

摘要

据报道,13名儿童出现了皮肤松弛、韧带松弛和运动发育迟缓综合征。所有患儿均为女孩。其中4名来自沙特阿拉伯。另一名沙特阿拉伯近亲结婚所生女孩,伴有宫内生长迟缓、前囟闭合延迟、运动发育迟缓、皮肤松弛和韧带松弛。该综合征似乎是一种常染色体隐性结缔组织疾病,男性致死。

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