Clinical manifestations in paediatric patients with XLH

XLH causes lifelong skeletal disease and can substantially decrease physical function and quality of life1

XLH typically presents during the first 2 years of life with progressive lower-extremity bowing or genu valgum, impaired growth after the onset of weight bearing, and the characteristic clinical signs of rickets. Pain, gait disturbances, and impaired gross motor function may also be observed.2,3

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