FALLOT COMPLEX, SEVERE MENTAL, AND GROWTH-RETARDATION - A NEW AUTOSOMAL RECESSIVE SYNDROME

被引:4
作者
BINDEWALD, B
ULMER, H
MULLER, U
机构
[1] UNIV GIESSEN,INST HUMAN GENET,D-35392 GIESSEN,GERMANY
[2] UNIV HEIDELBERG,KINDERKLIN,W-6900 HEIDELBERG,GERMANY
来源
AMERICAN JOURNAL OF MEDICAL GENETICS | 1994年 / 50卷 / 02期
关键词
FALLOT COMPLEX; CARDIAC ANOMALY; MINOR FACIAL ANOMALIES; MENTAL RETARDATION;
D O I
10.1002/ajmg.1320500207
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
We report on the syndromic occurrence of the Fallot complex in sibs born to consanguineous Pakistani parents. Additional manifestations included minor facial anomalies, pronounced failure to thrive, and mental retardation. Expression of the syndrome varied. While one of the four patients had cardiac malformations, another sib had only non-cardiac manifestations. The clinical findings suggest a new autosomal recessive syndrome. (C) 1994 Wiley-Liss, Inc.
引用
收藏
页码:173 / 176
页数:4
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