Holt-Oram syndrome in an infant presenting with heart failure

Abstract

Holt-Oram syndrome is an autosomal dominant condition characterized by morphological abnormalities of upper limbs andcongenital cardiac defects. We report a case of 6-week-old infant with morphological alterations of upper limbs (absent radiusand hypoplastic ulna) since birth and multiple congenital cardiac defects (atrial septal defects and ventricular septal defects), whopresented with congestive cardiac failure. This case report illustrates that neonates with anomalies of thumb or upper limbs shouldbe evaluated for possible congenital heart defects

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