AUTOSOMAL RECESSIVE INHERITANCE OF A SYNDROME OF HYPERTELORISM, HYPOSPADIAS, AND TETRALOGY OF FALLOT

被引：5

作者：

FARAG, TI ^{[1
]}

TEEBI, AS ^{[1
]}

机构：

[1] MATERN HOSP,KUWAIT MED GENET CTR,KUWAIT,KUWAIT

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS | 1990年 / 35卷 / 04期

关键词：

consanguinity; mental retardation; midline field defect; new syndrome; Opitz syndrome;

D O I：

10.1002/ajmg.1320350414

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

We report on 3 brothers with hypertelorism, hypospadias, and tetralogy of Fallot. Parents are first cousins once removed; the father has apparent hypertelorism. An apparently normal paternal uncle who is married to a second cousin also has a daughter with hypertelorism and tetralogy of Fallot. All similarly affected relatives have mild or borderline mental retardation. The combination of anomalies may represent a previously undescribed autosomal recessive disorder.

引用

页码：516 / 518

页数：3

共 9 条

[1] G-SYNDROME - AN UNUSUAL FAMILY [J].