导致一名儿童失明的缺指（趾）-外胚层发育不良-腭裂综合征
Ectrodactyly-ectodermal dysplasia-clefting syndrome causing blindness in a child.
作者信息
Rosenberg Jamie B, Butrus Salim, Bazemore Marlet G
机构信息
Department of Ophthalmology, Montefiore Medical Center, Bronx, New York 10467, USA.
出版信息
J AAPOS. 2011 Feb;15(1):80-2. doi: 10.1016/j.jaapos.2010.12.001.
PMID:21397811
Abstract
Ectrodactyly-ectodermal dysplasia-clefting syndrome, the result of a mutation in the gene encoding tumor protein p63, causes ocular surface disease. It is typically progressive, with vision loss in adulthood. We present a case of severe corneal disease, glaucoma, and blindness related to ectrodactyly-ectodermal dysplasia-clefting syndrome in a 3-year-old female patient.
摘要
缺指（趾）-外胚层发育不良-腭裂综合征是由编码肿瘤蛋白p63的基因突变引起的，可导致眼表疾病。该病通常呈进行性发展，成年后会导致视力丧失。我们报告了一名3岁女性患者，其患有与缺指（趾）-外胚层发育不良-腭裂综合征相关的严重角膜疾病、青光眼和失明。
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