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Hypophosphatasia
Cheryl A. Petersilge, MD, MBA
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KEY FACTS

  • Imaging

    • Top Differential Diagnoses

      • Pathology

        • Clinical Issues

          IMAGING

          • General Features

            • Radiographic Findings

              • Ultrasonographic Findings

                DIFFERENTIAL DIAGNOSIS

                  PATHOLOGY

                  • General Features

                    • Microscopic Features

                      CLINICAL ISSUES

                      • Presentation

                        • Demographics

                          • Natural History & Prognosis

                            • Treatment

                              Selected References

                              1. Bianchi ML: Hypophosphatasia: an overview of the disease and its treatment. Osteoporos Int. 26(12):2743-57, 2015
                              2. Guguloth A et al: Prenatal diagnosis of hypophosphatasia congenita using ultrasonography. Ultrasonography. 35(1):83-6, 2015
                              3. Hofmann C et al: Recombinant enzyme replacement therapy in hypophosphatasia. Subcell Biochem. 76:323-41, 2015
                              4. Reibel A et al: Orodental phenotype and genotype findings in all subtypes of hypophosphatasia. Orphanet J Rare Dis. 4:6, 2009
                              5. Mornet E: Hypophosphatasia. Orphanet J Rare Dis. 2:40, 2007
                              6. Uras I et al: Bilateral transverse (Bowdler) fibular spurs with hypophosphatasia in an adolescent girl. Korean J Radiol. 6(1):52-4, 2005
                              7. Ramage IJ et al: Hypophosphatasia. J Clin Pathol. 49(8):682-4, 1996
                              8. Shohat M et al: Perinatal lethal hypophosphatasia; clinical, radiologic and morphologic findings. Pediatr Radiol. 21(6):421-7, 1991
                              9. Oestreich AE et al: Prominent transverse (Bowdler) bone spurs as a diagnostic clue in a case of neonatal hypophosphatasia without metaphyseal irregularity. Pediatr Radiol. 19(5):341-2, 1989
                              10. Kozlowski K et al: Hypophosphatasia. Review of 24 cases. Pediatr Radiol. 5(2):103-17, 1976
                              Related Anatomy
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                              Related Differential Diagnoses
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                              References
                              Tables

                              Tables

                              KEY FACTS

                              • Imaging

                                • Top Differential Diagnoses

                                  • Pathology

                                    • Clinical Issues

                                      IMAGING

                                      • General Features

                                        • Radiographic Findings

                                          • Ultrasonographic Findings

                                            DIFFERENTIAL DIAGNOSIS

                                              PATHOLOGY

                                              • General Features

                                                • Microscopic Features

                                                  CLINICAL ISSUES

                                                  • Presentation

                                                    • Demographics

                                                      • Natural History & Prognosis

                                                        • Treatment

                                                          Selected References

                                                          1. Bianchi ML: Hypophosphatasia: an overview of the disease and its treatment. Osteoporos Int. 26(12):2743-57, 2015
                                                          2. Guguloth A et al: Prenatal diagnosis of hypophosphatasia congenita using ultrasonography. Ultrasonography. 35(1):83-6, 2015
                                                          3. Hofmann C et al: Recombinant enzyme replacement therapy in hypophosphatasia. Subcell Biochem. 76:323-41, 2015
                                                          4. Reibel A et al: Orodental phenotype and genotype findings in all subtypes of hypophosphatasia. Orphanet J Rare Dis. 4:6, 2009
                                                          5. Mornet E: Hypophosphatasia. Orphanet J Rare Dis. 2:40, 2007
                                                          6. Uras I et al: Bilateral transverse (Bowdler) fibular spurs with hypophosphatasia in an adolescent girl. Korean J Radiol. 6(1):52-4, 2005
                                                          7. Ramage IJ et al: Hypophosphatasia. J Clin Pathol. 49(8):682-4, 1996
                                                          8. Shohat M et al: Perinatal lethal hypophosphatasia; clinical, radiologic and morphologic findings. Pediatr Radiol. 21(6):421-7, 1991
                                                          9. Oestreich AE et al: Prominent transverse (Bowdler) bone spurs as a diagnostic clue in a case of neonatal hypophosphatasia without metaphyseal irregularity. Pediatr Radiol. 19(5):341-2, 1989
                                                          10. Kozlowski K et al: Hypophosphatasia. Review of 24 cases. Pediatr Radiol. 5(2):103-17, 1976