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严重尺骨发育不全和龙虾爪样足的家族性发病:一种新综合征。

Familial occurrence of severe ulnar aplasia and lobster claw feet: a new syndrome.

作者信息

van den Berghe H, Dequeker J, Fryns J P, David G

出版信息

Hum Genet. 1978 May 16;42(1):109-13. doi: 10.1007/BF00291633.

Abstract

In this paper we describe a previously unreported association of ulnar defect and lobster-claw deformity of the feet, occurring in four males belonging to two generations of the same family. Minor expression of the same ulnar reduction defect in female relatives suggests X-linked recessive inheritance, but an autosomal dominant with irregular expression cannot be excluded.

摘要

在本文中,我们描述了一种先前未报道的尺骨缺损与足部龙虾爪样畸形的关联,该情况发生在同一家族两代的四名男性中。女性亲属中相同尺骨发育不全缺陷的轻微表现提示X连锁隐性遗传,但也不能排除具有不规则表现的常染色体显性遗传。

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