Windswept lower limb deformities in patients with hypophosphataemic rickets

Area of Science:

• Orthopedics
• Genetics
• Pediatrics

Background:

• X-linked hypophosphataemic rickets is an X-linked dominant disorder causing renal phosphate-wasting.
• Genu varum and genu valgum are common, but windswept deformity (valgus in one knee, varus in the other) was most frequent in this cohort.
• Windswept deformity involves valgus deformity in one knee and varus deformity in the other.

Purpose of the Study:

• To analyze phenotypic and genotypic correlations in X-linked hypophosphataemic rickets.
• To evaluate surgical interventions for windswept lower limb deformity.
• To understand the common deformities and recurrence risks in this condition.

Main Methods:

• Seven patients with X-linked hypophosphataemic rickets and windswept lower limb deformity were studied.
• Phenotypic and genotypic features were assessed.
• Surgical procedures were performed to correct appearance, function, and biomechanics.

Main Results:

• Orthopaedic re-alignment measures were applied to correct deformities.
• Post-operative assessments indicated significant improvements in balance and gait.
• Surgical interventions aimed to restore normal growth and development.

Conclusions:

• Windswept lower limb deformity is the most common angular deformity in patients with X-linked hypophosphataemic rickets.
• Accurate diagnosis through skeletal surveys and genotypic characterization is crucial for effective treatment.
• Deformity recurrence is common, with a higher risk observed in younger patients.