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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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
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author 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
author_facet 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
author_sort Foy, Malika
collection PubMed
description 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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spelling pubmed-99697622023-02-28 A severe case of PLOD1 ‐related kyphoscoliotic Ehlers–Danlos syndrome associated with several arterial and venous complications: A case report 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 Clin Case Rep 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 kEDS‐PLOD1 with several vascular complications leading to difficulties in disease management. John Wiley and Sons Inc. 2023-02-27 /pmc/articles/PMC9969762/ /pubmed/36860721 http://dx.doi.org/10.1002/ccr3.6760 Text en © 2023 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd. https://creativecommons.org/licenses/by-nc-nd/4.0/This is an open access article under the terms of the http://creativecommons.org/licenses/by-nc-nd/4.0/ (https://creativecommons.org/licenses/by-nc-nd/4.0/) License, which permits use and distribution in any medium, provided the original work is properly cited, the use is non‐commercial and no modifications or adaptations are made.
spellingShingle Case Report
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
A severe case of PLOD1 ‐related kyphoscoliotic Ehlers–Danlos syndrome associated with several arterial and venous complications: A case report
title A severe case of PLOD1 ‐related kyphoscoliotic Ehlers–Danlos syndrome associated with several arterial and venous complications: A case report
title_full A severe case of PLOD1 ‐related kyphoscoliotic Ehlers–Danlos syndrome associated with several arterial and venous complications: A case report
title_fullStr A severe case of PLOD1 ‐related kyphoscoliotic Ehlers–Danlos syndrome associated with several arterial and venous complications: A case report
title_full_unstemmed A severe case of PLOD1 ‐related kyphoscoliotic Ehlers–Danlos syndrome associated with several arterial and venous complications: A case report
title_short A severe case of PLOD1 ‐related kyphoscoliotic Ehlers–Danlos syndrome associated with several arterial and venous complications: A case report
title_sort severe case of plod1 ‐related kyphoscoliotic ehlers–danlos syndrome associated with several arterial and venous complications: a case report
topic Case Report
url 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
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