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Case Report



Sotos syndrome Case report of a rare genetic disorder

Medhini Madi, Subhas G Babu, Shishir Ram Shetty, Ananya Madiyal, Sonika Achalli, Supriya Bhat.

Abstract
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.

Key words: Sotos, mutation, syndrome, overgrowth



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The articles in Bibliomed are open access articles licensed under the terms of the Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International License (https://creativecommons.org/licenses/by-nc-sa/4.0/) which permits unrestricted, non-commercial use, distribution and reproduction in any medium, provided the work is properly cited.
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