E-ISSN 2149-2018
 

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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Pubmed Style

Medhini Madi, Subhas G Babu, Shishir Ram Shetty, Ananya Madiyal, Sonika Achalli, Supriya Bhat. Sotos syndrome Case report of a rare genetic disorder. Appl Med Res. 2016; 2(3): 63-67. doi:10.5455/amr.20161127090558


Web Style

Medhini Madi, Subhas G Babu, Shishir Ram Shetty, Ananya Madiyal, Sonika Achalli, Supriya Bhat. Sotos syndrome Case report of a rare genetic disorder. http://www.ejmamr.com/?mno=242559 [Access: December 15, 2018]. doi:10.5455/amr.20161127090558


AMA (American Medical Association) Style

Medhini Madi, Subhas G Babu, Shishir Ram Shetty, Ananya Madiyal, Sonika Achalli, Supriya Bhat. Sotos syndrome Case report of a rare genetic disorder. Appl Med Res. 2016; 2(3): 63-67. doi:10.5455/amr.20161127090558



Vancouver/ICMJE Style

Medhini Madi, Subhas G Babu, Shishir Ram Shetty, Ananya Madiyal, Sonika Achalli, Supriya Bhat. Sotos syndrome Case report of a rare genetic disorder. Appl Med Res. (2016), [cited December 15, 2018]; 2(3): 63-67. doi:10.5455/amr.20161127090558



Harvard Style

Medhini Madi, Subhas G Babu, Shishir Ram Shetty, Ananya Madiyal, Sonika Achalli, Supriya Bhat (2016) Sotos syndrome Case report of a rare genetic disorder. Appl Med Res, 2 (3), 63-67. doi:10.5455/amr.20161127090558



Turabian Style

Medhini Madi, Subhas G Babu, Shishir Ram Shetty, Ananya Madiyal, Sonika Achalli, Supriya Bhat. 2016. Sotos syndrome Case report of a rare genetic disorder. Applied Medical Research, 2 (3), 63-67. doi:10.5455/amr.20161127090558



Chicago Style

Medhini Madi, Subhas G Babu, Shishir Ram Shetty, Ananya Madiyal, Sonika Achalli, Supriya Bhat. "Sotos syndrome Case report of a rare genetic disorder." Applied Medical Research 2 (2016), 63-67. doi:10.5455/amr.20161127090558



MLA (The Modern Language Association) Style

Medhini Madi, Subhas G Babu, Shishir Ram Shetty, Ananya Madiyal, Sonika Achalli, Supriya Bhat. "Sotos syndrome Case report of a rare genetic disorder." Applied Medical Research 2.3 (2016), 63-67. Print. doi:10.5455/amr.20161127090558



APA (American Psychological Association) Style

Medhini Madi, Subhas G Babu, Shishir Ram Shetty, Ananya Madiyal, Sonika Achalli, Supriya Bhat (2016) Sotos syndrome Case report of a rare genetic disorder. Applied Medical Research, 2 (3), 63-67. doi:10.5455/amr.20161127090558





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