A new case of oculoectodermal syndrome

Thomas K.M. Lee, Royce L.C. Johnson, Ian M. MacDonald, Alfons L. Krol, J. Stephen Bamforth

Research output: Contribution to journalArticle

11 Scopus citations

Abstract

An 11-month-old infant girl presented with right-sided features of aplasia cutis congenita of the scalp, unilateral epibulbar dermoids, eccentric pupil, coloboma of the right upper eyelid, and depigmentation of the fundus surrounding the right optic nerve. These findings were similar to the oculoectodermal syndrome reported by other clinicians and researchers.

Original languageEnglish (US)
Pages (from-to)131-133
Number of pages3
JournalOphthalmic Genetics
Volume26
Issue number3
DOIs
StatePublished - Sep 1 2005

Keywords

  • Aplasia cutis congenita
  • Coloboma
  • Oculoectodermal syndrome

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Ophthalmology
  • Genetics(clinical)

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  • Cite this

    Lee, T. K. M., Johnson, R. L. C., MacDonald, I. M., Krol, A. L., & Bamforth, J. S. (2005). A new case of oculoectodermal syndrome. Ophthalmic Genetics, 26(3), 131-133. https://doi.org/10.1080/13816810500228811