Work

Rare vascular presentation of PLOD1-related kyphoscoliotic Ehlers–Danlos syndrome in a 10-year-old girl with severe arterial complications

Year: 2025

Type: article

Abstract: 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

Source: Kardiologia Polska

DOI: 10.33963/v.phj.109448