Autosomal recessive cleft lip/palate, ectodermal dysplasia, and minor acral anomalies: Report of a Brazilian family
- 15 September 1992
- journal article
- case report
- Published by Wiley in American Journal of Medical Genetics
- Vol. 44 (2) , 158-162
- https://doi.org/10.1002/ajmg.1320440208
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.Keywords
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