Autosomal recessive cleft lip/palate,ectodermal dysplasia,and minor acral anomalies: Report of a Brazilian family |
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| Authors: | Antonio Richieri-Costa Maria Leine Guion-Almeida Newton Freire-Maia Marta Pinheiro |
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| Affiliation: | Servi?o de Genética Clínica, Hospital de Pesquisa e Reabilitac?o de Les?es Lábio-Palatais, Universidade de S?o Paulo, Bauru, SP, Brazil |
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| 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. © 1992 Wiley-Liss, Inc. |
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| Keywords: | cleft lip/palate ectodermal dysplasia digital webbing Martinez syndrome Zlotogora– Ogur syndrome autosomal recessive inheritance |
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