TY - JOUR
T1 - Oculoectodermal syndrome with coarctation of the aorta and moyamoya disease
T2 - Expanding the phenotype to include vascular anomalies
AU - Horev, Liran
AU - Lees, Melissa M.
AU - Anteby, Irene
AU - Gomori, John M.
AU - Gunny, Roxana
AU - Ben-Neriah, Ziva
PY - 2011/3
Y1 - 2011/3
N2 - 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.
AB - 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.
KW - Aplasia cutis congenital
KW - Epibulbar dermoid
KW - Moyamoya disease
KW - Oculoectodermal syndrome
UR - http://www.scopus.com/inward/record.url?scp=79952001090&partnerID=8YFLogxK
U2 - 10.1002/ajmg.a.33104
DO - 10.1002/ajmg.a.33104
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C2 - 21337683
AN - SCOPUS:79952001090
SN - 1552-4825
VL - 155
SP - 577
EP - 581
JO - American Journal of Medical Genetics, Part A
JF - American Journal of Medical Genetics, Part A
IS - 3
ER -
