Cutaneous features associated with microcephalic osteodysplastic primordial dwarfism type II

被引：6
|
作者：
Webber, Naomi [1 ]
O'Toole, Edel A. [1 ]
Paige, David G. [1 ]
Rosser, Elisabeth [2 ]
机构：
[1] Barts & London NHS Trust, Dept Dermatol, London, England
[2] Great Ormond St Hosp Sick Children, Dept Clin Genet, London WC1N 3JH, England
来源：
PEDIATRIC DERMATOLOGY | 2008年 / 25卷 / 03期
关键词：
D O I：
10.1111/j.1525-1470.2008.00698.x
中图分类号：
R75 [皮肤病学与性病学];
学科分类号：
100206 ;
摘要：
We present an 18-month-old Pakistani girl who had short stature, craniofacial dysmorphism, and multiple cafe-au-lait spots. After consultation with the geneticists, microcephalic osteodysplastic primordial dwarfism type II was diagnosed (MIM210720). The presence of consanguinity in reported families is suggestive of autosomal recessive inheritance.
引用
收藏
页码：401 / 402
页数：3
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