Fig. 1: Burden of XLH disease in an adolescent patient.

Radiographic images in a 16-year-old girl with X-linked hypophosphataemia (XLH)-associated rickets. The patient had sporadic disease with a confirmed PHEX pathogenic variant. Conventional therapy (oral phosphate supplements and calcitriol) was started in the second year of life. a | Severe and complex multi-apical varus deformity and maltorsion. b | Bilateral deformity correction and body height increase (9.5 cm) was achieved by performing multiple osteotomies and stabilization with external fixators (a Taylor Spatial Frame). c | Last follow-up at age 25 years (5 years after the last surgical procedure) with high patient satisfaction, high daily activity, no joint or muscle pains and excellent limb alignment. This patient illustrates the severity of bone deformities in XLH and the clinical efficacy of orthopaedic surgery in conjunction with conventional therapy. Image courtesy of C. Radler, Orthopaedic Hospital Speising, Vienna.