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Sotos syndrome: An interesting disorder with gigantism
We report the case of a 16-year-old boy diagnosed to have Sotos syndrome, with rare association of bilateral primary optic atrophy and epilepsy. He presented with accelerated linear growth, facial gestalt, distinctive facial features, seizures and progressive diminution of vision in both eyes. He ha...
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Formato: | Texto |
Lenguaje: | English |
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Medknow Publications
2008
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Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2771975/ https://www.ncbi.nlm.nih.gov/pubmed/19893668 http://dx.doi.org/10.4103/0972-2327.42941 |
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author | Nalini, A. Biswas, Arundhati |
author_facet | Nalini, A. Biswas, Arundhati |
author_sort | Nalini, A. |
collection | PubMed |
description | We report the case of a 16-year-old boy diagnosed to have Sotos syndrome, with rare association of bilateral primary optic atrophy and epilepsy. He presented with accelerated linear growth, facial gestalt, distinctive facial features, seizures and progressive diminution of vision in both eyes. He had features of gigantism from early childhood. An MRI showed that brain and endocrine functions were normal. This case is of interest, as we have to be aware of this not so rare disorder. In addition to the classic features, there were two unusual associations with Sotos syndrome in the patient. |
format | Text |
id | pubmed-2771975 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2008 |
publisher | Medknow Publications |
record_format | MEDLINE/PubMed |
spelling | pubmed-27719752009-11-05 Sotos syndrome: An interesting disorder with gigantism Nalini, A. Biswas, Arundhati Ann Indian Acad Neurol Case Report We report the case of a 16-year-old boy diagnosed to have Sotos syndrome, with rare association of bilateral primary optic atrophy and epilepsy. He presented with accelerated linear growth, facial gestalt, distinctive facial features, seizures and progressive diminution of vision in both eyes. He had features of gigantism from early childhood. An MRI showed that brain and endocrine functions were normal. This case is of interest, as we have to be aware of this not so rare disorder. In addition to the classic features, there were two unusual associations with Sotos syndrome in the patient. Medknow Publications 2008 /pmc/articles/PMC2771975/ /pubmed/19893668 http://dx.doi.org/10.4103/0972-2327.42941 Text en © Annals of Indian Academy of Neurology http://creativecommons.org/licenses/by/2.0/ This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. |
spellingShingle | Case Report Nalini, A. Biswas, Arundhati Sotos syndrome: An interesting disorder with gigantism |
title | Sotos syndrome: An interesting disorder with gigantism |
title_full | Sotos syndrome: An interesting disorder with gigantism |
title_fullStr | Sotos syndrome: An interesting disorder with gigantism |
title_full_unstemmed | Sotos syndrome: An interesting disorder with gigantism |
title_short | Sotos syndrome: An interesting disorder with gigantism |
title_sort | sotos syndrome: an interesting disorder with gigantism |
topic | Case Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2771975/ https://www.ncbi.nlm.nih.gov/pubmed/19893668 http://dx.doi.org/10.4103/0972-2327.42941 |
work_keys_str_mv | AT nalinia sotossyndromeaninterestingdisorderwithgigantism AT biswasarundhati sotossyndromeaninterestingdisorderwithgigantism |