title: Autosomal recessive cleft lip/palate, ectodermal dysplasia, and minor acral anomalies: report of a Brazilian family.
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.
authors.affiliation: Serviço de Genética Clínica, Hospital de Pesquisa e Reabilitacão de Lesões Lábio-Palatais, Universidade de São Paulo, Bauru, Brazil.
authors.forename: A
authors.initials: A
authors.lastname: Richieri-Costa
authors.forename: M L
authors.initials: ML
authors.lastname: Guion-Almeida
authors.forename: N
authors.initials: N
authors.lastname: Freire-Maia
authors.forename: M
authors.initials: M
authors.lastname: Pinheiro
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D000328:Adult; D003241:Consanguinity; D004476:Ectodermal Dysplasia / Q000235:genetics*; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D017880:Limb Deformities, Congenital; D009056:Mouth Abnormalities / Q000235:genetics*; D010375:Pedigree; D013577:Syndrome