A severe case of
PLOD1 gene
case report
kyphoscoliotic Ehlers–Danlos syndrome
vascular complications
Journal
Clinical case reports
ISSN: 2050-0904
Titre abrégé: Clin Case Rep
Pays: England
ID NLM: 101620385
Informations de publication
Date de publication:
Feb 2023
Feb 2023
Historique:
received:
29
08
2022
revised:
25
11
2022
accepted:
05
12
2022
entrez:
2
3
2023
pubmed:
3
3
2023
medline:
3
3
2023
Statut:
epublish
Résumé
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.
Identifiants
pubmed: 36860721
doi: 10.1002/ccr3.6760
pii: CCR36760
pmc: PMC9969762
doi:
Types de publication
Case Reports
Langues
eng
Pagination
e6760Informations de copyright
© 2023 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd.
Déclaration de conflit d'intérêts
No conflict of interest to disclose.
Références
BMJ Case Rep. 2018 Jul 6;2018:
pubmed: 29982180
Am J Med Genet A. 2005 Mar 1;133A(2):158-64
pubmed: 15666309
Br J Ophthalmol. 1970 Apr;54(4):263-8
pubmed: 5428655
Eur J Vasc Endovasc Surg. 2012 Nov;44(5):482-4
pubmed: 22981642
Am J Med Genet A. 2019 Jul;179(7):1226-1234
pubmed: 31075184
Orphanet J Rare Dis. 2011 Jun 23;6:46
pubmed: 21699693
Am J Med Genet C Semin Med Genet. 2017 Mar;175(1):8-26
pubmed: 28306229
Vasa. 2014 May;43(3):216-21
pubmed: 24797054
Nat Genet. 1992 Nov;2(3):228-31
pubmed: 1345174
Genet Med. 2018 Jun;20(6):562-573
pubmed: 28981071
Ann Neurol. 2009 Jun;65(6):687-97
pubmed: 19557868
Acta Cardiol. 2021 Jul;76(5):557-558
pubmed: 32746767
Hum Mutat. 2000 Jul;16(1):90
pubmed: 10874315
Matrix Biol. 2018 Oct;71-72:380-395
pubmed: 29709596