Goldberg-Shprintzen syndrome: report of a new family and review of the literature

被引：17

作者：

Fryer, AE ^{[1
]}

机构：

[1] Royal Liverpool Childrens Hosp, Dept Clin Genet, Liverpool L12 2AP, Merseyside, England

来源：

CLINICAL DYSMORPHOLOGY | 1998年 / 7卷 / 02期

关键词：

Goldberg-Shprintzen syndrome; Hirschsprung disease; autosomal recessive inheritance;

D O I：

10.1097/00019605-199804000-00003

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

In 1981, Goldberg and Shprintzen described siblings with short-segment Hirschsprung disease, cleft palate, microcephaly, mild mental retardation, short stature and distinctive facial appearance. There have been several subsequent reports which broaden the phenotype. This paper describes a further family, reviews the literature and stresses the intra-familial variability. (C) Chapman & Hall Ltd.

引用

页码：97 / 101

页数：5

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