X-Linked Hypophosphataemia is an X-linked dominant disorder caused by the mutation of the phosphate-regulating neutral endopeptidase gene sequence. The classical presentations are short stature and dental abscesses, with radiographic evidence of rickets and osteomalacia. It is also strongly associated with X-linked familial history. We described a case of a middle-aged woman who presented with a femur fracture. Physical examination shows that the patient is overweight, short stature with bowing of legs. Trident fingers, frontal bossing depressed nasal bridge and maxillary hypoplasia were not present. She underwent dynamic locking of the intramedullary nail of the right femur. The patient recovered well and had no postoperative complications.
Key words: X Linked Hypophosphataemia, Fracture, Dynamic locking intramedullary nail
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