Holt-Oram Syndrome – A Case Report and a Short Review

Abstract

Holt-Oram syndrome also known as the heart-hand syndrome type 1, is an autosomal dominant rare congenital disorder, manifested as a conglomeration of various skeletal and cardiac abnormalities. The list of differential diagnoses of such abnormalities is extensive but careful examination can point towards a specific diagnosis even without genetic testing in a resource-limited country. We present a sporadic case of Holt-Oram syndrome with OS-ASD highlighting the diagnostic problem without genetic testing and discussing differentiating salient features of most of the syndromic associations.