| Literature DB >> 1456284 |
A Richieri-Costa1, M L Guion-Almeida, N Freire-Maia, M Pinheiro.
Abstract
We report on a Brazilian woman, born to consanguineous (first cousin) parents (F = 1/16) and presenting cleft lip/palate, ectodermal dysplasia, interdigital webbing, and other malformations. Parental consanguinity and possible recurrence in sibs suggest autosomal recessive inheritance. The nosologic aspects with the Martinez syndrome and with the Zlotogora-Ogur syndrome are discussed.Entities:
Mesh:
Year: 1992 PMID: 1456284 DOI: 10.1002/ajmg.1320440208
Source DB: PubMed Journal: Am J Med Genet ISSN: 0148-7299