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

(Clinical case reports, v11.2:e6760)

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.

© 2023 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd.

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TitleA severe case of PLOD1-related kyphoscoliotic Ehlers-Danlos syndrome associated with several arterial and venous complications: A case report.
Date2023-02-01
Issue nameClinical case reports
Issue numberv11.2:e6760
DOI10.1002/ccr3.6760
PubMed36860721
AuthorsFoy M, Métay C, Frank M, Denarié N, Adham S, Billon C, Legrand A, Jeunemaitre X, Gillas F, Gaudon K, De Mazancourt P, Mekki A, Carlier R & Benistan K
KeywordsPLOD1 gene, case report, kyphoscoliotic Ehlers–Danlos syndrome, vascular complications
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