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Autosomal recessive cleft lip/palate, ectodermal dysplasia, and minor acral anomalies: report of a Brazilian family

A Richieri-Costa1, M L Guion-Almeida, N Freire-Maia

  • 1Serviço de Genética Clínica, Hospital de Pesquisa e Reabilitacão de Lesões Lábio-Palatais, Universidade de São Paulo, Bauru, Brazil.

American Journal of Medical Genetics
|September 15, 1992
PubMed

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.

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