[The Holt-Oram syndrome: report of a case (author's transl)].
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.
D000328:Adult; D001132:Arm / Q000002:abnormalities*; D005260:Female; D006343:Heart Septal Defects / Q000150:complications / Q000235:genetics*; D006801:Humans; D011884:Radius / Q000002:abnormalities; D013933:Thumb / Q000002:abnormalities; D014953:Wrist / Q000002:abnormalities
Sindrome di Holt-Oram. Descrizione di un caso