Midfoot and Forefoot Disorders in Adolescents and Adults with X-Linked Hypophosphatemia.

ABSTRACT: Objectives: X-linked hypophosphatemia (XLH, OMIM 307800) is a rare genetic disorder that affects phosphate metabolism. While lower limb deformity represents a hallmark symptom of patients with XLH, the effect on the foot has not been investigated. This study aimed to characterise foot pathologies and assess related outcome scores in adolescents and adults with XLH. Methods: Patients aged ≥ 16 years with genetically verified XLH were included in this study. Physical examination was performed, and foot scores as well as foot X-rays were assessed. Radiographic analysis included the assessment of osteoarthritis, enthesopathies, and alignment abnormalities. Results: Twenty-six participants (51 limbs) with a mean age of 33.9 ± 15.4 years were eligible for the study. Patients

SUBMITTER: Wenzel-Schwarz F 

PROVIDER: S-EPMC11594587 | biostudies-literature | 2024 Nov

REPOSITORIES: biostudies-literature