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

页码：430 / 432

页数：3

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