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

页码：80 / 82

页数：3

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