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常染色体显性轴前性缺损、轴后多指(趾)畸形和尿道下裂。

Autosomal dominant preaxial deficiency, postaxial polydactyly, and hypospadias.

作者信息

Guttmacher A E

机构信息

Department of Pediatrics, University of Vermont College of Medicine, Burlington.

出版信息

Am J Med Genet. 1993 Apr 15;46(2):219-22. doi: 10.1002/ajmg.1320460223.

Abstract

We report on 3 individuals, a man and his son and daughter, who were born with preaxial deficiencies of the hands and feet and postaxial polydactyly of the hands. Both males also had glandular hypospadias. Certain of these findings resemble those found in the hand-foot-genital syndrome; however, we conclude that this family has a hitherto unreported autosomal dominant condition. Production by a single gene defect of preaxial deficiencies and postaxial polydactyly in the same individual is of note.

摘要

我们报告了3例患者,1名男性及其子女,他们出生时伴有手足的轴前性发育不全和手部的轴后性多指畸形。两名男性还患有腺体性尿道下裂。其中一些发现类似于手足生殖器综合征中的表现;然而,我们得出结论,这个家族患有一种迄今未报道的常染色体显性疾病。同一个体因单一基因缺陷导致轴前性发育不全和轴后性多指畸形值得关注。

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