link
Bookmarks
 (0)
Musculoskeletal
Diagnosis
Non-Traumatic Disease
Metabolic Bone Disease
Miscellaneous Metabolic Conditions
Hypophosphatasia
Hypophosphatasia
Cheryl A. Petersilge, MD, MBA
To access 4,300 diagnoses written by the world's leading experts in radiology, please log in or subscribe.Log inSubscribe
0
4
24
4

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
                              Loading...
                              Related Differential Diagnoses
                              Loading...
                              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