Published Date: December 1, 1994

Full Text Article

Aplasia cutis congenita with epibulbar dermoids: further evidence for syndromic identity of the ocular ectodermal syndrome

Authors: J Gardner, D Viljoen

Am J Med Genet. 1994 Dec 1;53(4):317-20. doi: 10.1002/ajmg.1320530403.


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.

PMID: 7864039DOI: 10.1002/ajmg.1320530403