Ectrodactyly-ectodermal dysplasia-clefting syndrome causing blindness in a child

被引：4
|
作者：
Rosenberg, Jamie B. [1 ]
Butrus, Salim [2 ]
Bazemore, Marlet G. [3 ]
机构：
[1] Montefiore Med Ctr, Dept Ophthalmol, Bronx, NY 10467 USA
[2] George Washington Univ Hosp, Georgetown Univ Hosp, Washington, DC USA
[3] Childrens Natl Med Ctr, Washington, DC 20010 USA
来源：
JOURNAL OF AAPOS | 2011年 / 15卷 / 01期
关键词：
LIP-PALATE SYNDROME; OCULAR MANIFESTATIONS; EEC-SYNDROME; DRY EYE; EVAPORATION;
D O I：
10.1016/j.jaapos.2010.12.001
中图分类号：
R77 [眼科学];
学科分类号：
100212 ;
摘要：
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.
引用
收藏
页码：80 / 82
页数：3
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