X-linked hypophosphatemia in a 2-year-old male child and a 17-year-old female: A case report

X-linked hypophosphatemia is the most common heritable form of rickets, caused by inactivating mutations in the PHEX gene, leading to excess fibroblast growth factor-23 activity. This results in renal phosphate wasting, impaired vitamin D metabolism, and defective bone mineralization. The disorder typically presents in childhood with bowing of the legs, short stature, and radiographic features of rickets. Here, we present a classic case of a 2-year-old child and a 17-year-old female with bowing of legs diagnosed as X-linked hypophosphatemic rickets.