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

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

Research output: Contribution to journalArticle

4 Citations (Scopus)

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 languageEnglish (US)
Pages (from-to)80-82
Number of pages3
JournalJournal of AAPOS
Volume15
Issue number1
DOIs
StatePublished - Feb 2011

Fingerprint

Blindness
Corneal Diseases
Eye Diseases
Glaucoma
Mutation
Genes
Neoplasms
Proteins
Ectrodactyly-cleft lip-palate syndrome

ASJC Scopus subject areas

  • Ophthalmology
  • Pediatrics, Perinatology, and Child Health

Cite this

Ectrodactyly-ectodermal dysplasia-clefting syndrome causing blindness in a child. / Rosenberg, Jamie B.; Butrus, Salim; Bazemore, Marlet G.

In: Journal of AAPOS, Vol. 15, No. 1, 02.2011, p. 80-82.

Research output: Contribution to journalArticle

Rosenberg, Jamie B. ; Butrus, Salim ; Bazemore, Marlet G. / Ectrodactyly-ectodermal dysplasia-clefting syndrome causing blindness in a child. In: Journal of AAPOS. 2011 ; Vol. 15, No. 1. pp. 80-82.
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