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
收藏
页码：353 / 355
页数：3
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