title: Aplasia cutis congenita with epibulbar dermoids: further evidence for syndromic identity of the ocular ectodermal syndrome.
abstract: We have investigated 2 young South African girls with aplasia cutis congenita, epibulbar dermoids, and strabismus. This unique association of anomalies was first documented in two unrelated boys by Toriello et al. [1993: Am. J. Med. Genet. 45:764-766]. Our clinical and histological findings are markedly similar, and we think this to be the second report of individuals with this rare syndrome.
authors.affiliation: Department of Human Genetics, University of Cape Town, Medical School, South Africa.
authors.forename: J
authors.initials: J
authors.lastname: Gardner
authors.forename: D
authors.initials: D
authors.lastname: Viljoen
mesh_terms: D000328:Adult; D002675:Child, Preschool; D003884:Dermoid Cyst / Q000151:congenital; D004476:Ectodermal Dysplasia; D005134:Eye Neoplasms / Q000151:congenital; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D012868:Skin Abnormalities; D013019:South Africa; D013285:Strabismus / Q000151:congenital; D013577:Syndrome