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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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Detalles Bibliográficos
Autores principales: Nalini, A., Biswas, Arundhati
Formato: Texto
Lenguaje:English
Publicado: Medknow Publications 2008
Materias:
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.
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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
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