title: Orthopaedic problems in adult hypophosphatasia: a report of two cases.
abstract: Hypophosphatasia in adults is rare. Two elderly sisters presenting with pathological fractures of the femur are reported to illustrate the difficulties in orthopaedic management of this disease. All patients with a history of repeated fractures, especially from minor trauma and with generalised radiological bony abnormality, should be screened for this rare disease. A consistently low level of serum alkaline phosphatase with the presence of phosphoethanolamine in the urine is diagnostic.
mesh_terms: D000368:Aged; D005260:Female; D005264:Femoral Fractures / Q000209:etiology*; D005265:Femoral Neck Fractures / Q000209:etiology*; D005598:Fractures, Spontaneous / Q000209:etiology*; D006801:Humans; D007014:Hypophosphatasia / Q000150:complications* / Q000235:genetics; D008875:Middle Aged; D014945:Wound Healing