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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Format: | Article |
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Wiley
2023-02-01
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Series: | Clinical Case Reports |
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Online Access: | https://doi.org/10.1002/ccr3.6760 |
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author | 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 |
author_facet | 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 |
author_sort | Malika Foy |
collection | DOAJ |
description | 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. |
first_indexed | 2024-04-09T21:32:22Z |
format | Article |
id | doaj.art-45807d7cf6fb4df093eb632eb220d642 |
institution | Directory Open Access Journal |
issn | 2050-0904 |
language | English |
last_indexed | 2024-04-09T21:32:22Z |
publishDate | 2023-02-01 |
publisher | Wiley |
record_format | Article |
series | Clinical Case Reports |
spelling | doaj.art-45807d7cf6fb4df093eb632eb220d6422023-03-27T08:31:44ZengWileyClinical Case Reports2050-09042023-02-01112n/an/a10.1002/ccr3.6760A severe case of PLOD1‐related kyphoscoliotic Ehlers–Danlos syndrome associated with several arterial and venous complications: A case reportMalika Foy0Corinne Métay1Michael Frank2Nicolas Denarié3Salma Adham4Clarisse Billon5Anne Legrand6Xavier Jeunemaitre7Fabrice Gillas8Karen Gaudon9Philippe De Mazancourt10Ahmed Mekki11Robert Carlier12Karelle Benistan13AP‐HP, GHU Paris Saclay, Hôpital Raymond Poincaré, Centre de référence des syndromes d'Ehlers‐Danlos non vasculaires Garches FranceAP‐HP, Groupe Hospitalier La Pitié‐Salpêtrière‐Charles Foix, Centre de Génétique Moléculaire et Chromosomique, Unité Fonctionnelle de Cardiogénétique et Myogénétique moléculaire et cellulaire Paris FranceAP‐HP, Hôpital européen Georges Pompidou, Centre de référence des maladies vasculaires rares et service de Génétique, PARCC INSERM UMR970, VASCERN MSA European Reference Centre Paris FranceAP‐HP, Hôpital européen Georges Pompidou, Centre de référence des maladies vasculaires rares et service de Génétique, PARCC INSERM UMR970, VASCERN MSA European Reference Centre Paris FranceCHU de Montpellier, Hôpital Saint Eloi, Service de Médecine Vasculaire – Montpellier Montpellier FranceAP‐HP, Hôpital européen Georges Pompidou, Centre de référence des maladies vasculaires rares et service de Génétique, PARCC INSERM UMR970, VASCERN MSA European Reference Centre Paris FranceAP‐HP, Hôpital européen Georges Pompidou, Centre de référence des maladies vasculaires rares et service de Génétique, PARCC INSERM UMR970, VASCERN MSA European Reference Centre Paris FranceAP‐HP, Hôpital européen Georges Pompidou, Centre de référence des maladies vasculaires rares et service de Génétique, PARCC INSERM UMR970, VASCERN MSA European Reference Centre Paris FranceAP‐HP, GHU Paris Saclay, Hôpital Raymond Poincaré, Centre de référence des syndromes d'Ehlers‐Danlos non vasculaires Garches FranceAP‐HP, Groupe Hospitalier La Pitié‐Salpêtrière‐Charles Foix, Centre de Génétique Moléculaire et Chromosomique, Unité Fonctionnelle de Cardiogénétique et Myogénétique moléculaire et cellulaire Paris FranceAP‐HP, GHU Paris Saclay, Hôpital Ambroise Paré, Laboratoire de Biochimie Boulogne Billancourt FranceAP‐HP, GHU Paris Saclay, Hôpital Raymond Poincaré, DMU Smart Imaging Garches FranceAP‐HP, GHU Paris Saclay, Hôpital Raymond Poincaré, DMU Smart Imaging, UMR1179 INSERM Garches FranceAP‐HP, GHU Paris Saclay, Hôpital Raymond Poincaré, Centre de référence des syndromes d'Ehlers‐Danlos non vasculaires, UMR1179 INSERM Garches FranceAbstract 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.https://doi.org/10.1002/ccr3.6760case reportkyphoscoliotic Ehlers–Danlos syndromePLOD1 genevascular complications |
spellingShingle | 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 A severe case of PLOD1‐related kyphoscoliotic Ehlers–Danlos syndrome associated with several arterial and venous complications: A case report Clinical Case Reports case report kyphoscoliotic Ehlers–Danlos syndrome PLOD1 gene vascular complications |
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 kyphoscoliotic Ehlers–Danlos syndrome PLOD1 gene vascular complications |
url | https://doi.org/10.1002/ccr3.6760 |
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