Marianne Rohrbach

Between myopathy and mortality: Challenges in the diagnosis of PLOD1 -related kyphoscoliotic Ehlers-Danlos syndrome

Objective PLOD1-related kyphoscoliotic Ehlers-Danlos syndrome (kEDS) is a rare autosomal recessive connective tissue disorder characterized by generalized joint laxity, severe congenital hypotonia, progressive kyphoscoliosis, hyperextensible and easily bruised skin, ocular abnorm...