PubMed:1010253 JSONTXT 8 Projects

[The Holt-Oram syndrome: report of a case (author's transl)]. Sindrome di Holt-Oram. Descrizione di un caso A case of the Holt-Oram syndrome is described, that is, the association of a skeletal anomaly of the superior limbs, with a constant involvment of the thumbs, and an ostium secundum defect with a prolonged P-R interval. The case presented has the peculiarity of being sporadic, while from the literature a familiarity is almost constant via an autosomic dominant hereditary transmission. The more common syndromes were an alteration of the superior limbs is associated with a congenital cardiopathy are schematically underlined. Finally, the embriological reasons of this not rare association are briefly discussed.