Premium
Oculoectodermal syndrome with coarctation of the aorta and moyamoya disease: Expanding the phenotype to include vascular anomalies
Author(s) -
Horev Liran,
Lees Melissa M.,
Anteby Irene,
Gomori John M.,
Gunny Roxana,
BenNeriah Ziva
Publication year - 2011
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.33104
Subject(s) - medicine , coarctation of the aorta , moyamoya disease , cardiology , scalp , vascular disease , disease , aorta , surgery
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. © 2011 Wiley‐Liss, Inc.