Perinatal/neonatal case presentation: unexpected severe respiratory insufficiency in a newborn with Holt-Oram Syndrome.

Holt-Oram syndrome is an autosomal dominant condition characterized by skeletal and cardiac defects. Pulmonary malformation is not reported to belong to the spectrum of this condition. We report a second case of a newborn with Holt-Oram syndrome who developed severe respiratory insufficiency shortly after birth. We discuss possible genetic links between abnormal pulmonary morphogenesis and Holt-Oram syndrome.