A severe case of <scp><i>PLOD1</i></scp>‐related kyphoscoliotic <scp>Ehlers–Danlos</scp> syndrome associated with several arterial and venous complications: A case report-Reference-Cited by-同舟云学术

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

Published:2023-02 Issue:2 Volume:11 Page:
ISSN:2050-0904
Container-title:Clinical Case Reports
language:en
Short-container-title:Clinical Case Reports

Author:

Foy Malika¹^ORCID,Métay Corinne²,Frank Michael³,Denarié Nicolas³,Adham Salma⁴^ORCID,Billon Clarisse³,Legrand Anne³⁵,Jeunemaitre Xavier³⁵,Gillas Fabrice¹,Gaudon Karen²,De Mazancourt Philippe⁶,Mekki Ahmed⁷,Carlier Robert⁸,Benistan Karelle⁹^ORCID

Affiliation:

1. AP‐HP, GHU Paris Saclay, Hôpital Raymond Poincaré, Centre de référence des syndromes d'Ehlers‐Danlos non vasculaires Garches France

2. AP‐HP, Groupe Hospitalier La Pitié‐Salpêtrière‐Charles Foix, Centre de Génétique Moléculaire et Chromosomique, Unité Fonctionnelle de Cardiogénétique et Myogénétique moléculaire et cellulaire Paris France

3. AP‐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 France

4. CHU de Montpellier, Hôpital Saint Eloi, Service de Médecine Vasculaire – Montpellier Montpellier France

5. Université de Paris, Faculté de Médecine Paris France

6. AP‐HP, GHU Paris Saclay, Hôpital Ambroise Paré, Laboratoire de Biochimie Boulogne Billancourt France

7. AP‐HP, GHU Paris Saclay, Hôpital Raymond Poincaré, DMU Smart Imaging Garches France

8. AP‐HP, GHU Paris Saclay, Hôpital Raymond Poincaré, DMU Smart Imaging, UMR1179 INSERM Garches France

9. AP‐HP, GHU Paris Saclay, Hôpital Raymond Poincaré, Centre de référence des syndromes d'Ehlers‐Danlos non vasculaires, UMR1179 INSERM Garches France

Abstract

AbstractKyphoscoliotic 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.

Publisher

Wiley

Subject

General Medicine

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ccr3.6760

Reference15 articles.

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2. Mutational analysis of the lysyl hydroxylase 1 gene (PLOD) in six unrelated patients with Ehlers-Danlos syndrome type VI: Prenatal exclusion of this disorder in one family

3. A homozygous stop codon in the lysyl hydroxylase gene in two siblings with Ehlers–Danlos syndrome type VI

4. Phenotypic variability of the kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VIA): clinical, molecular and biochemical delineation

5. Vascular phenotypes in nonvascular subtypes of the Ehlers-Danlos syndrome: a systematic review

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1. Spontaneous celiac artery aneurysms in 13-year-old and 10-year-old brothers with PLOD1-related kyphoscoliotic Ehlers-Danlos syndrome;Journal of Vascular Surgery Cases, Innovations and Techniques;2024-06

2. Type 1 kyphoscoliotic Ehlers–Danlos syndrome caused by mutations of the PLOD1 gene: analysis of own observations;Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics);2024-03-07