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X-linked hypophosphatemic rickets (XLH, OMIM #307800) is a rare genetic metabolic disorder caused by dysregulation of fibroblast-like growth factor 23 (FGF23) leading to profound reduction in renal phosphate reabsorption. Impaired growth, severe rickets and complex skeletal deformities are direct consequences of hypophosphatemia representing major symptoms of XLH during childhood. In adults, secondary complications including early development of osteoarthritis substantially impair quality of life and cause significant clinical burden. With the global approval of the monoclonal FGF23 antibody burosumab, a targeted treatment with promising results in phase III studies is available for children with XLH. Nevertheless, complete phenotypic rescue is rarely achieved and remaining multisystemic symptoms demand multidisciplinary specialist care. Coordination of patient management within the major

Purpose The Ponseti method has become the gold standard for clubfoot treatment. Although promising short-term results have been published, only a few studies report results at the end of the bracing period. We aimed to evaluate the functional midterm results, rate of recurrence and need for subsequent surgery. Methods Patients from our prospective database of clubfeet treated with the Ponseti method with a minimum age of three years were identified. Exclusion criteria were syndrome or neurogenic association, address in a foreign country, presentation after six weeks of age, more than three casts applied elsewhere and correction with less than three casts. A total of 125 patients met the inclusion criteria. The Pediatric Outcomes Data Collection Instrument (PODCI), the disease-specific instrument (DSI) questionnaire and an invitation for a clinical examination were sent out. For patients not presenting for evaluation, data from the last follow-up were extracted. Results Seventy questionnaires (56 %) of patients with a mean age of 5.7 years (3.3-8.9 years) were returned. The DSI score (n=65) was 85.3 (± 13.01 SD) and the PODCI score (n=59) was 95.5 (± 6.3 SD). A total of 113 of 125 patients (90.4 %) with 182 clubfeet were examined in the study or seen in follow-up. During a mean follow-up of 5.2 years (range 3-8.5 years) a repeat tenotomy was performed in 4 % of cases, a percutaneous Achilles tendon lengthening in 3 %, a tibialis anterior tendon transfer in 13 % and open joint surgery in 5 %. The mean dorsiflexion with knee extended was 15.9°(range 0-32°; SD ±5.5) with 16 feet (9 %) presenting less than 10°. Conclusions The functional scores indicate that the Ponseti method results in mostly pain-free feet not limiting ageappropriate activity. In this consecutive case series open joint surgery could be avoided in 95 % of cases with a good functional and anatomic outcome.

BackgroundX-linked hypophosphatemia (XLH) is a rare genetic disorder characterized by lower limb deformity, gait and joint problems, and pain. Hence, quality of life is substantially impaired. This study aimed to assess lower limb deformity, specific radiographic changes, and gait deviations among adolescents and adults with XLH.DesignData on laboratory examination and gait analysis results were analyzed retrospectively. Deformities, osteoarthritis, pseudofractures, and enthesopathies on lower limb radiographs were investigated. Gait analysis findings were compared between the XLH group and the control group comprising healthy adults.Patients and ControlsRadiographic outcomes were assessed retrospectively in 43 patients with XLH (28 female, 15 male). Gait analysis data was available in 29 patients with confirmed XLH and compared to a healthy reference cohort (n=76).ResultsPatients with XLH had a lower gait quality compared to healthy controls (Gait deviation index GDI 65.9% +/- 16.2). About 48.3% of the study population presented with a greater lateral trunk lean, commonly referred to as waddling gait. A higher BMI and mechanical axis deviation of the lower limbs were associated with lower gait scores and greater lateral trunk lean. Patients with radiologic signs of enthesopathies had a lower GDI.ConclusionsThis study showed for the first time that lower limb deformity, BMI, and typical features of XLH such as enthesopathies negatively affected gait quality among adolescents and adults with XLH.