A LETHAL SKELETAL DYSPLASIA WITH GENERALIZED SCLEROSIS AND ADVANCED SKELETAL MATURATION - BLOMSTRAND CHONDRODYSPLASIA

被引：20

作者：

YOUNG, ID

ZUCCOLLO, JM

BRODERICK, NJ

机构：

[1] QUEENS MED CTR, DEPT HISTOPATHOL, NOTTINGHAM NG7 2UH, ENGLAND

[2] QUEENS MED CTR, DEPT RADIOL, NOTTINGHAM NG7 2UH, ENGLAND

来源：

JOURNAL OF MEDICAL GENETICS | 1993年 / 30卷 / 02期

关键词：

D O I：

10.1136/jmg.30.2.155

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

The clinical and radiological features in a baby thought to have Blomstrand chondrodysplasia are presented. The hallmarks of this rare lethal disorder are an increase in bone density and advanced skeletal maturation. A high incidence of parental consanguinity is consistent with autosomal recessive inheritance.

引用

页码：155 / 157

页数：3