Ehlers-Danlos Syndrome Type VI in a 17-Year-Old Iranian Boy with Severe Muscular Weakness – A Diagnostic Challenge?

BACKGROUND: The Ehlers-Danlos syndrome type VI (EDSVI) is an autosomal recessive connective tissue disease which is characterized by severe hypotonia at birth, progressive kyphoscoliosis, skin hyperelasticity and fragility, joint hypermobility and (sub-)luxations, microcornea, rupture of arteries an...

Descripción completa

Detalles Bibliográficos
Autores principales: Kariminejad, Ariana, Bozorgmehr, Bita, Khatami, Alireza, Kariminejad, Mohamad-Hasan, Giunta, Cecilia, Steinmann, Beat
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Tehran University of Medical Sciences 2010
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3446046/
https://www.ncbi.nlm.nih.gov/pubmed/23056730

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3446046/
https://www.ncbi.nlm.nih.gov/pubmed/23056730

Ejemplares similares