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

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

Abstract 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 sever...

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Bibliographic Details
Main Authors: Malika Foy, Corinne Métay, Michael Frank, Nicolas Denarié, Salma Adham, Clarisse Billon, Anne Legrand, Xavier Jeunemaitre, Fabrice Gillas, Karen Gaudon, Philippe De Mazancourt, Ahmed Mekki, Robert Carlier, Karelle Benistan
Format: Article
Language:English
Published: Wiley 2023-02-01
Series:Clinical Case Reports
Subjects:
case report
kyphoscoliotic Ehlers–Danlos syndrome
PLOD1 gene
vascular complications
Online Access:https://doi.org/10.1002/ccr3.6760

Internet

https://doi.org/10.1002/ccr3.6760

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