Male with type II autosomal recessive cutis laxa
作者:
Kiyoshi Imaizumi,
Kenji Kurosawa,
Yoshio Makita,
Mitsuo Masuno,
Yoshikazu Kuroki,
期刊:
Clinical Genetics
(WILEY Available online 1994)
卷期:
Volume 45,
issue 1
页码: 40-43
ISSN:0009-9163
年代: 1994
DOI:10.1111/j.1399-0004.1994.tb03988.x
出版商: Blackwell Publishing Ltd
关键词: autosomal recessive;congenital dislocation of both hips;cutis laxa;dysmorphic facial manifestations;growth retardation
数据来源: WILEY
摘要:
A 5‐year‐old boy, who had pre‐ and postnatal growth retardation, delayed motor development, cutis laxa, delayed closure of large fontanels, congenital hip dislocation and characteristic facies, is described. Disorders with cutis laxa are now divided into five types. The patient had clinical manifestations very similar to those of cutis laxa with bone dystrophy (type II autosomal recessive cutis laxa). Eighteen patients have been reported, the ratio of males to females being 5 to 14. This is the fifth case of this disorder occurring in a male, which provides further evidence for autosomal recessive inheri
点击下载:
PDF
(490KB)
返 回