title: Apparent Malpuech syndrome: report on three Brazilian patients with additional signs.
abstract: We report on 3 unrelated Brazilian patients with shortness of stature, hypertelorism, eye anomalies, facial clefting, hearing loss, urogenital abnormalities, omphalocele, "caudal appendage," and mental retardation. Two patients were born to normal and non-consanguineous parents and one was born to consanguineous (first cousin) parents (F = 1/16). The similarity of our patients with those previously reported by Malpuech et al. [Am J Med Genet 16:475-480, 1983] led us to suggest that they have the same condition.
authors.affiliation: Servico de Genética Clínica, Hospital de Pesquisa e Reabilitação de Lesões Lábio-Palatais, Universidade de São Paulo, Bauru, Brazil.
authors.forename: M L
authors.initials: ML
authors.lastname: Guion-Almeida
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics / Q000473:pathology / Q000503:physiopathology*; D000328:Adult; D001938:Brazil; D002648:Child; D002675:Child, Preschool; D003241:Consanguinity; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000235:genetics / Q000473:pathology / Q000503:physiopathology*; D008297:Male; D013577:Syndrome