[Holt-Oram syndrome. Presentation of two cases (author's transl)].
Authors present two new cases of the Host-Oram syndrome in the same family, characterized by the association of cardiac anomalies and the upper members, both aspects varying greatly, transmissible with a dominant autosomal character. In one case there was unilateral renal agenesis, association described for the second time in literature. Data provided by other authors uphold this, as far as the variable and generally progressive penetration of the syndrome are concerned, as well as the frequent association with other diverse malformations.
D000015:Abnormalities, Multiple / Q000235:genetics*; D000328:Adult; D004480:Ectromelia / Q000235:genetics*; D005260:Female; D006330:Heart Defects, Congenital / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D007668:Kidney / Q000002:abnormalities; D010375:Pedigree; D013577:Syndrome
Síndrome de Holt-Oram. A propósito de dos casos.