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...

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