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.
Smets
Koenraad
K
Neonatal Intensive Care Unit, Ghent University Hospital, Gent, Belgium.
Mortier
Geert
G
Zecic
Aleksandra
A
D006332:Cardiomegaly / Q000150:complications; D002348:Carpal Bones / Q000002:abnormalities; D050278:Finger Phalanges / Q000002:abnormalities; D050276:Hand Bones / Q000002:abnormalities*; D006330:Heart Defects, Congenital / Q000150:complications* / Q000235:genetics; D006801:Humans; D007231:Infant, Newborn; D008168:Lung / Q000002:abnormalities; D011884:Radius / Q000002:abnormalities*; D012121:Respiration, Artificial; D012131:Respiratory Insufficiency / Q000209:etiology* / Q000235:genetics; D013577:Syndrome; D020825:T-Box Domain Proteins / Q000235:genetics
D020825:T-Box Domain Proteins; C103172:T-box transcription factor 5