APLASIA-CUTIS-CONGENITA WITH EPIBULBAR DERMOIDS - FURTHER EVIDENCE FOR SYNDROMIC IDENTITY OF THE OCULAR ECTODERMAL SYNDROME

Authors
GARDNER J VILJOEN D
Citation
J. Gardner et D. Viljoen, APLASIA-CUTIS-CONGENITA WITH EPIBULBAR DERMOIDS - FURTHER EVIDENCE FOR SYNDROMIC IDENTITY OF THE OCULAR ECTODERMAL SYNDROME, American journal of medical genetics, 53(4), 1994, pp. 317-320
Citations number
5
Categorie Soggetti
Genetics & Heredity
Journal title
American journal of medical genetics → ACNP
ISSN journal
01487299
Volume
53
Issue
4
Year of publication
1994
Pages
317 - 320
Database
ISI
SICI code
0148-7299(1994)53:4<317:AWED-F>2.0.ZU;2-L
Abstract
We have investigated 2 young South African girls with aplasia cutis co ngenita, epibulbar dermoids, and strabismus. This unique association o f anomalies was first documented in two unrelated boys by Toriello ct al. [1993: Am, J. Med, Genet. 45:764-766]. Our clinical and histologic al findings are markedly similar, and we think this to be the second r eport of individuals with this rare syndrome. (C) 1994 Wiley-Liss, Inc .