ESPE Abstracts

Background: XLHR is due to mutations in the PHEX gene leading to unregulated production of FGF23, hence hypophosphatemia and decreased renal 1,25OH-vitamin D hydroxylation. Amongst other features, XLHR is characterized by leg bowing of variable severity. Phosphate supplements and oral 1,25OH-vitamin D, partially or, in some cases, fully restore the limb straightness. For severe or residual limb deformities, orthopaedic surgery may be recommended.Objectiv...