Sotos syndrome – Case report of a rare genetic disorder
Medhini Madi, Subhas G Babu, Shishir Ram Shetty, Ananya Madiyal, Sonika Achalli, Supriya Bhat
Applied Medical Research. 2016;
Sotos syndrome is a congenital disorder that is characterised by pre and post natal overgrowth, mental retardation of variable degree, advanced bone age, and distinctive craniofacial features like macrocephaly frontal bossing and high hair line. Recently several reports have presented that haploinsufficiency of the gene for NSD1 (the nuclear-receptor-binding SET-domain-containing protein 1) at 5q35 causes Sotos syndrome. This syndrome is often difficult to diagnose due to the substantial similarities with the other ill defined overgrowth phenotypes. Here we report a rare case of Sotos syndrome describing the clinical features and the craniofacial findings usually manifested in these patients.