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

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
Source :
Clinical Case Reports, Vol 11, Iss 2, Pp n/a-n/a (2023)
Publication Year :
2023
Publisher :
Wiley, 2023.

Abstract

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 severe case of kEDS‐PLOD1 with several vascular complications leading to difficulties in disease management.

Details

Language :
English
ISSN :
20500904
Volume :
11
Issue :
2
Database :
Directory of Open Access Journals
Journal :
Clinical Case Reports
Publication Type :
Academic Journal
Accession number :
edsdoj.45807d7cf6fb4df093eb632eb220d642
Document Type :
article
Full Text :
https://doi.org/10.1002/ccr3.6760