A severe case of PLOD1 ‐related kyphoscoliotic Ehlers–Danlos syndrome associated with several arterial and venous complications: A case report

Kyphoscoliotic Ehlers–Danlos syndrome (kEDS) is a rare genetic disorder combining congenital hypotonia, congenital/early onset and progressive kyphoscoliosis, and generalized joint hypermobility. Vascular fragility is another characteristic of the disease rarely described. We report a severe case of...

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Detalles Bibliográficos
Autores principales: Foy, Malika, Métay, Corinne, Frank, Michael, Denarié, Nicolas, Adham, Salma, Billon, Clarisse, Legrand, Anne, Jeunemaitre, Xavier, Gillas, Fabrice, Gaudon, Karen, De Mazancourt, Philippe, Mekki, Ahmed, Carlier, Robert, Benistan, Karelle
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9969762/
https://www.ncbi.nlm.nih.gov/pubmed/36860721
http://dx.doi.org/10.1002/ccr3.6760
Descripción
Sumario:Kyphoscoliotic Ehlers–Danlos syndrome (kEDS) is a rare genetic disorder combining congenital hypotonia, congenital/early onset and progressive kyphoscoliosis, and generalized joint hypermobility. Vascular fragility is another characteristic of the disease rarely described. We report a severe case of kEDS‐PLOD1 with several vascular complications leading to difficulties in disease management.

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