Megalocornea - Urticaria pigmentosa syndrome - A new syndrome?

被引：3
作者：
Avela, Kristiina [1 ]
Reija, Alen [2 ]
Maria, Huttunen [3 ]
Olavi, Parssinen [4 ]
机构：
[1] Family Federat Finland, Dept Med Genet, Helsinki 00101, Finland
[2] Cent Hosp Cent Finland, Dept Child Neurol, Jyvaskyla, Finland
[3] Cent Hosp Cent Finland, Dept Dermatol, Jyvaskyla, Finland
[4] Cent Hosp Cent Finland, Dept Ophthalmol, Jyvaskyla, Finland
来源：
EUROPEAN JOURNAL OF MEDICAL GENETICS | 2009年 / 52卷 / 06期
关键词：
Syndrome; Urticaria pigmentosa; Corneal disease; Megalocornea; X-LINKED MEGALOCORNEA; MASTOCYTOSIS; MUTATION; LINKAGE;
D O I：
10.1016/j.ejmg.2009.08.003
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
We describe a Finnish boy with megalocornea, urticaria pigmentosa, mild delay in speech and motor development, and slightly dysmorphic facial features. The karyotype and the array-CGH analysis did not reveal any abnormalities. This combination of symptoms has not been reported previously suggesting this might be a new syndrome with an unknown etiology. (C) 2009 Elsevier Masson SAS. All rights reserved.
引用
收藏
页码：430 / 432
页数：3
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