Rare PHEX intron variant causes complete and severe phenotype in a family with hypophosphatemic rickets: a case report.

Objectives: Lower limb deformities in children need careful orthopedic evaluation to distinguish physiological forms from pathological ones. X-linked hypophosphatemia (XLH) is a rare hereditary condition caused by PHEX gene mutations where tibial varum can be the first sign.

Case Presentation: We report a family presenting with severe tibial varum, harbouring a rare intron mutation, c.