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

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• 作者：Jamie B. Rosenberg MD^a ; ^{Jamiebella78@gmail.com} ; Salim Butrus MD^b ; Marlet G. Bazemore MD^c
• 刊名：Journal of American Association for Pediatric Ophthalmology and Strabismus
• 出版年：2011
• 出版时间：February 2011
• 年：2011
• 卷：15
• 期：1
• 页码：80-82
• 全文大小：288 K

文摘

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.