THE SYNDROME OF HIRSCHSPRUNG DISEASE, MICROCEPHALY, UNUSUAL FACE, AND MENTAL-RETARDATION

被引：25

作者：

HALAL, F

MOREL, J

机构：

[1] MCGILL UNIV,MONTREAL CHILDRENS HOSP,DEPT PEDIAT,MONTREAL H3H 1P3,QUEBEC,CANADA

[2] UNIV MONTREAL,HOP ST JUSTINE,MONTREAL H3T 1C5,QUEBEC,CANADA

[3] UNIV MONTREAL,HOP NOTRE DAME,DEPT PEDIAT,MONTREAL H3C 3J7,QUEBEC,CANADA

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS | 1990年 / 37卷 / 01期

关键词：

abnormal CT brain scan; abnormal gait; cryptorchidism; Hirschsprung disease; microcephaly; narrow palpebral fissures; prominauris; psychomotor retardation; short stature;

D O I：

10.1002/ajmg.1320370125

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Here we report on a boy with Hirschsprung megacolon associated with microcephaly, narrow palpebral fissures, broad nasal bridge, congenital heart defects, cryptorchidism, wide-base gait, short stature, developmental delay and abnormal computed tomography (CT) brain scan. The findings are compared with those of previously described patients with the same syndrome.

引用

页码：106 / 108

页数：3

共 11 条

[1]

Brunoni D, 1983, J Clin Dysmorphol, V1, P20

[2]

CARACHI R, 1982, Z KINDERCHIR, V35, P24

[3] ASSOCIATED DEVELOPMENTAL ABNORMALITIES OF THE ANTERIOR END OF THE NEURAL CREST - HIRSCHSPRUNGS-DISEASE WAARDENBURGS SYNDROME [J].