Rare vascular presentation of PLOD1-related kyphoscoliotic Ehlers–Danlos syndrome in 10-year-old girl with severe arterial complications
Kyphoscoliotic Ehlers-Danlos syndrome (kEDS) is a rare autosomal recessive connective tissue disorder with an estimated incidence of 1 in 100 000 individuals [1].It is characterized by skin hyperextensibility, tissue fragility, joint hypermobility, and congenital or early-onset progressive
Authors
- Jerzy Leszczyński (ORCID: https://orcid.org/0000-0003-3541-4011)
- Anna Rożnowska-Wójtowicz (ORCID: https://orcid.org/0009-0002-8964-8518)
- Bożena Werner (ORCID: https://orcid.org/0000-0002-6416-4106)
- Rafał Maciąg (ORCID: https://orcid.org/0000-0002-6981-565X)
- Mariusz Furmanek (ORCID: https://orcid.org/0000-0002-6713-6338)
- Izabela Janiec
- Zbigniew Gałązka (ORCID: https://orcid.org/0000-0001-5542-3404)
Institutions
- Medical University of Warsaw (PL)
Publication Details
- Journal
- Kardiologia Polska
- Published
- 2025-11-03
- DOI
- https://doi.org/10.33963/v.phj.109448
- Primary Topic
- Connective tissue disorders research
- Type
- article
- Field-Weighted Citation Impact
- 0.00