Oculoectodermal syndrome with coarctation of the aorta and moyamoya disease: Expanding the phenotype to include vascular anomalies

Liran Horev, Melissa M. Lees, Irene Anteby, John M. Gomori, Roxana Gunny, Ziva Ben-Neriah*

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

12 Scopus citations

Abstract

Oculoectodermal syndrome (OES, OMIM 600268) is characterized by discrete areas of alopecia of the scalp and epibulbar dermoids which are present from birth, with additional variable anomalies. We describe two patients, one of whom has been reported [Lees et al. (2000); Am J Med Genet 91:391-395], who both had coarctation of the descending aorta and moyamoya disease, and developed epilepsy, recurrent transient ischemic attacks, and cerebrovascular accidents during early childhood. We suspect that the vascular findings are an integral part of the syndrome.

Original languageAmerican English
Pages (from-to)577-581
Number of pages5
JournalAmerican Journal of Medical Genetics, Part A
Volume155
Issue number3
DOIs
StatePublished - Mar 2011
Externally publishedYes

Keywords

  • Aplasia cutis congenital
  • Epibulbar dermoid
  • Moyamoya disease
  • Oculoectodermal syndrome

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