Maternal systemic lupus erythematosus and chondrodysplasia punctata in two sibs:: phenocopy or coincidence?

被引：27

作者：

Elçioglu, N ^{[1
]}

Hall, CM ^{[1
]}

机构：

[1] Great Ormond St Hosp Children NHS Trust, Dept Radiol, London WC1N 3JH, England

来源：

JOURNAL OF MEDICAL GENETICS | 1998年 / 35卷 / 08期

关键词：

systemic lupus erythematosus; chondrodysplasia punctata; metacarpal type; brachytelephalangic type;

D O I：

10.1136/jmg.35.8.690

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Two sibs with chondrodysplasia punctata in whom the mother was suffering from systemic lupus erythematosus are presented and the radiological features described. Comparison with other forms of chondrodysplasia punctata with a review of the relevant publications is presented and the possible asscociation with maternal systemic lupus erythematosus is highlighted.

引用

页码：690 / 694

页数：5

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