MICROCEPHALY AND DIGITAL ANOMALIES - A NEWLY RECOGNIZED SYNDROME OF RECESSIVELY INHERITED MENTAL-RETARDATION

被引：10

作者：

KELLY, TE

KIRSON, L

WYATT, J

机构：

[1] UNIV VIRGINIA,MED CTR,SCH MED,DIV MED GENET,CHARLOTTESVILLE,VA 22901

[2] CENT VIRGINIA TRAINING CTR,LYNCHBURG,VA

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS | 1993年 / 45卷 / 03期

关键词：

SYNDACTYLY; AUTOSOMAL RECESSIVE; X-LINKED RECESSIVE;

D O I：

10.1002/ajmg.1320450313

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

We describe 2 brothers with congenital microcephaly and moderately severe mental retardation. The presence of identical and symmetrical digital anomalies suggests that this constellation represents a clinically recognizable recessively inherited mental retardation syndrome. Recognition of the clinical diagnosis should provide accurate genetic counseling to parents of a single affected child.

引用

页码：353 / 355

页数：3