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

Jamie B. Rosenberg; Salim Butrus; Marlet G. Bazemore

doi:10.1016/j.jaapos.2010.12.001

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

Jamie B. Rosenberg, Salim Butrus, Marlet G. Bazemore

Ophthalmology & Visual Sciences

Research output: Contribution to journal › Article › peer-review

8 Scopus citations

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.

Original language	English (US)
Pages (from-to)	80-82
Number of pages	3
Journal	Journal of AAPOS
Volume	15
Issue number	1
DOIs	https://doi.org/10.1016/j.jaapos.2010.12.001
State	Published - Feb 2011

ASJC Scopus subject areas

Pediatrics, Perinatology, and Child Health
Ophthalmology

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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.",

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AB - 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.

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

Abstract

ASJC Scopus subject areas

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