Autosomal recessive ectodermal dysplasia: I. An undescribed dysplasia/malformation syndrome
Article first published online: 6 JUN 2005
Copyright © 1991 Wiley-Liss, Inc., A Wiley Company
American Journal of Medical Genetics
Volume 41, Issue 4, pages 398–404, 15 December 1991
How to Cite
Bustos, T., Simosa, V., Pinto-Cisternas, J., Abramovits, W., Jolay, L., Rodriguez, L., Fernandez, L. and Ramela, M. (1991), Autosomal recessive ectodermal dysplasia: I. An undescribed dysplasia/malformation syndrome. Am. J. Med. Genet., 41: 398–404. doi: 10.1002/ajmg.1320410403
- Issue published online: 6 JUN 2005
- Article first published online: 6 JUN 2005
- Manuscript Revised: 17 DEC 1990
- Manuscript Received: 29 JUN 1989
- autosomal recessive inheritance;
- hydrotic ectodermal dysplasia;
- cleft lip and palate;
- pili torti;
We describe-27 individuals of 7 families related to each other with high probability who showed manifestations of ectodermal dysplasia and other anomalies affecting females as severely as males with variable expressivity. All parents were normal. These families were detected in a relatively isolated and inbred population with very small neighbouring communities from a Carribbean Sea island, Margarita Island, in Northeastern Venezuela (Nueva Esparta State).
The clinical picture common to all patients could not be classified within the heterogeneous group of known ectodermal dysplasias and the published cases do not resemble our patients.
We believe that this condition constitutes a newly recognized autosomal recessive dysplasia/malformation syndrome of ectodermal dysplasia.