AN APPARENTLY NEW MENTAL-RETARDATION SYNDROME IN 3 ELDERLY SISTERS

被引：0
|
作者：
VILJOEN, DL
KALLIS, J
VOGES, S
MARAIS, AS
VANVUUREN, I
机构：
[1] UNIV CAPE TOWN,DEPT HUMAN GENET,MRC UNIT INHERITED SKELETAL DISORDERS,CAPE TOWN,SOUTH AFRICA
[2] ALEXANDRA CARE & REHABIL CTR,CAPE TOWN,SOUTH AFRICA
[3] DEPT NATL HLTH & POPULAT DEV,GENET SERV,CAPE TOWN,SOUTH AFRICA
来源：
CLINICAL GENETICS | 1991年 / 40卷 / 01期
关键词：
AUTOSOMAL RECESSIVE INHERITANCE; BRACHYDACTYLY TYPE-D; MENTAL RETARDATION;
D O I：
暂无
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
Three elderly sisters with profound mental retardation in association with the clinical features of microcephaly, short stature, brachydactyly type D, flattened occiput, down-slanting palpebral fissures, low-set large ears, broad prominent nose and kyphoscoliosis have been investigated. Each was more than 60 years of age and their clinical features were strikingly similar. The disorder has several manifestations in common with Rubenstein-Taybi syndrome and appears to be inherited as an autosomal recessive in this family.
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页码：6 / 11
页数：6
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