PARENTAL CONSANGUINITY IN 2 SIBS WITH OMODYSPLASIA

被引：14

作者：

BAXOVA, A

MAROTEAUX, P

BAROSOVA, J

NETRIOVA, I

机构：

[1] DEREROVA NEMOCN,DEPT CLIN GENET,BRATISLAVA,SLOVAKIA

[2] DEPT CLIN GENET,NITRA,SLOVAKIA

[3] HOP ENFANTS MALAD,CNRS,URA 584,PARIS,FRANCE

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS | 1994年 / 49卷 / 03期

关键词：

OMODYSPLASIA; CONSANGUINITY; AUTOSOMAL RECESSIVE INHERITANCE;

D O I：

10.1002/ajmg.1320490303

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Two sibs with omodysplasia were born to phenotypically normal but consanguineous parents. They had severe micromelic dwarfism, facial anomalies, and mental retardation. One had a congenital heart defect. The radiographic findings are typical: hypoplastic distal end of the humerus with radioulnar diastasis. Parental consanguinity and clinical manifestations in 2 sibs suggest autosomal recessive inheritance. (C) 1994 Wiley-Liss, Inc.

引用

页码：263 / 265

页数：3

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