Hypophosphatasia is a rare genetic metabolic disorder characterised by defective bone mineralisation secondary to serum and bone alkaline phosphatase deficiency. We report a 46-year-old woman who underwent multiple intramedullary nailings for fractures and deformities of 6 long bones over 13 years.
GreenbergCREvansJAMcKendry-SmithSRedekoppSHaworthJCMulivorR. Infantile hypophosphatasia: Localization within chromosome region lp36.1–34 and prenatal diagnosis using linked DNA markers. Am J Hum Genet1990;46:286–92.
2.
MulivorRAMennutiMZackaiEHHarrisH. Prenatal diagnosis of hypophosphatasia: Genetic, biochemical, and clinical studies. Am J Hum Genet1978;30:271–82.
3.
RathbunJC. Hypophosphatasia; a new developmental anomaly. Am J Dis Child1948;75:822–31.
4.
WhyteMP. Hypophosphatasia. Primer on the metabolic bone diseases and disorders of mineral metabolism. 5th ed.New York: Lippincott; 2003:423–5.
5.
WhyteMP. Hypophosphatasia. The metabolic and molecular bases of inherited disease. 8th ed.New York: Lippincott; 2001:5313–29.
6.
NishiokaTTomatsuSGutierrezMAMiyamotoKTrandafirescuGGLopezPL. Enhancement of drug delivery to bone: Characterization of human tissue-nonspecific alkaline phosphatase tagged with an acidic oligopeptide. Mol Genet Metab2006;88:244–55.
7.
CoeJDMurphyWAWhyteMP. Management of femoral fractures and pseudofractures in adult hypophosphatasia. J Bone Joint Surg Am1986;68:981–90.
