GOLDBERG-SHPRINTZEN SYNDROME - HIRSCHSPRUNG DISEASE, HYPOTONIA, AND PTOSIS IN SIBS

被引：26

作者：

YOMO, A

TAIRA, T

KONDO, I

机构：

[1] UNIV RYUKYUS,FAC MED,DEPT HUMAN ECOL,NISHIHARA,OKINAWA 90301,JAPAN

[2] UNIV RYUKYUS,FAC MED,DEPT GENET,NISHIHARA,OKINAWA 90301,JAPAN

[3] OKINAWA PREFECTURAL NANBU HOSP,DEPT PEDIAT,OKINAWA,JAPAN

[4] OKINAWA PREFECTURAL NANBU HOSP,DEPT SURG,OKINAWA,JAPAN

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS | 1991年 / 41卷 / 02期

关键词：

HIRSCHSPRUNG DISEASE; GOLDBERG-SHPRINTZEN SYNDROME; HYPOTONIA; PTOSIS; AUTOSOMAL RECESSIVE INHERITANCE;

D O I：

10.1002/ajmg.1320410211

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

We describe a brother and sister with Hirschsprung disease, hypotonia, and ptosis. Their condition resembles that in 2 sibs reported by Goldberg and Shprintzen. We conclude that the clinical characteristics in 8 reported cases with similar clinical manifestations represent a distinct autosomal recessive syndrome, Goldberg-Shprintzen syndrome.

引用

页码：188 / 191

页数：4

共 12 条

[1] HIRSCHSPRUNGS-DISEASE, HYPOPLASTIC NAILS, AND MINOR DYSMORPHIC FEATURES - A DISTINCT AUTOSOMAL RECESSIVE SYNDROME [J].