Case Report of Dysmorphic Physical Findings in Male With Shapiro Syndrome

Shapiro syndrome is an extremely rare disorder characterized by a triad of episodic hypothermia below 95 °F (35°C), hyperhidrosis, and agenesis/dysgenesis of the corpus callosum. The exact mechanism is unknown. Based on a review of the literature, this is the first reported case of dysmorphic physic...

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Detalles Bibliográficos
Autores principales: Evers Smith, Catherine M, Creed, Eric
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cureus 2022
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9295303/
https://www.ncbi.nlm.nih.gov/pubmed/35875279
http://dx.doi.org/10.7759/cureus.26064
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author Evers Smith, Catherine M
Creed, Eric
author_facet Evers Smith, Catherine M
Creed, Eric
author_sort Evers Smith, Catherine M
collection PubMed
description Shapiro syndrome is an extremely rare disorder characterized by a triad of episodic hypothermia below 95 °F (35°C), hyperhidrosis, and agenesis/dysgenesis of the corpus callosum. The exact mechanism is unknown. Based on a review of the literature, this is the first reported case of dysmorphic physical exam findings in Shapiro syndrome. This case suggests the possibility of an underlying genetic disorder in Shapiro syndrome. 
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spelling pubmed-92953032022-07-21 Case Report of Dysmorphic Physical Findings in Male With Shapiro Syndrome Evers Smith, Catherine M Creed, Eric Cureus Genetics Shapiro syndrome is an extremely rare disorder characterized by a triad of episodic hypothermia below 95 °F (35°C), hyperhidrosis, and agenesis/dysgenesis of the corpus callosum. The exact mechanism is unknown. Based on a review of the literature, this is the first reported case of dysmorphic physical exam findings in Shapiro syndrome. This case suggests the possibility of an underlying genetic disorder in Shapiro syndrome.  Cureus 2022-06-18 /pmc/articles/PMC9295303/ /pubmed/35875279 http://dx.doi.org/10.7759/cureus.26064 Text en Copyright © 2022, Evers Smith et al. https://creativecommons.org/licenses/by/3.0/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 author and source are credited.
spellingShingle Genetics
Evers Smith, Catherine M
Creed, Eric
Case Report of Dysmorphic Physical Findings in Male With Shapiro Syndrome
title Case Report of Dysmorphic Physical Findings in Male With Shapiro Syndrome
title_full Case Report of Dysmorphic Physical Findings in Male With Shapiro Syndrome
title_fullStr Case Report of Dysmorphic Physical Findings in Male With Shapiro Syndrome
title_full_unstemmed Case Report of Dysmorphic Physical Findings in Male With Shapiro Syndrome
title_short Case Report of Dysmorphic Physical Findings in Male With Shapiro Syndrome
title_sort case report of dysmorphic physical findings in male with shapiro syndrome
topic Genetics
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9295303/
https://www.ncbi.nlm.nih.gov/pubmed/35875279
http://dx.doi.org/10.7759/cureus.26064
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