Hirschsprung disease associated with severe cartilage-hair hypoplasia

被引：26

作者：

Mäkitie, O

Kaitila, I

Rintala, R

机构：

[1] Univ Helsinki Hosp, Hosp Children & Adolescents, FIN-00029 Helsinki, Finland

[2] Univ Helsinki Hosp, Dept Clin Genet, FIN-00029 Helsinki, Finland

来源：

JOURNAL OF PEDIATRICS | 2001年 / 138卷 / 06期

关键词：

D O I：

10.1067/mpd.2001.113632

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

Cartilage-hair hypoplasia is a chondrodysplasia with a high incidence of Hirschsprung disease. This study suggests that Hirschsprung disease is associated especially with severe cartilage-hair hypoplasia: the patients with Hirschsprung disease had severe growth failure and a higher incidence of alopecia, infections, malignancies, and childhood anemia than the patients with cartilage-hair hypoplasia who did not have Hirschsprung disease.

引用

页码：929 / 931

页数：3

共 12 条

[1]

BADNER JA, 1990, AM J HUM GENET, V46, P568

[2] DEFECTIVE IN-VITRO COLONY FORMATION OF HEMATOPOIETIC PROGENITORS IN PATIENTS WITH CARTILAGE-HAIR HYPOPLASIA AND HISTORY OF ANEMIA [J].