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...

Descripción completa

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
Descripción
Sumario: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. 

Ejemplares similares