Holt Oram Syndrome - Case Report

The Holt–Oram syndrome or atriodigital dysplasia is an autosomal dominant disorder with near complete penetrance and variable expression, caused by mutations of the TBX5 gene (12q24.1), affecting one in 100 000 live births. 60% of cases are familial and 40% sporadic. We present the case of a 8 months old male patient presented with respiratory problem .Patient had characteristic right sided hand deformity . Further evaluation confirmed it Holt oram syndrome.