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Osteopetrosis
Kevin R. Moore, MD
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KEY FACTS

  • Terminology

    • Imaging

      • Top Differential Diagnoses

        • Pathology

          • Clinical Issues

            • Diagnostic Checklist

              TERMINOLOGY

              • Synonyms

                • Marble bone disease
              • Definitions

                • Heterogeneous grouping of hereditary osteoclast disorders
                • Multiple autosomal dominant and recessive forms

              IMAGING

              • General Features

                • Radiographic Findings

                  • CT Findings

                    • MR Findings

                      • Imaging Recommendations

                        DIFFERENTIAL DIAGNOSIS

                          PATHOLOGY

                          • General Features

                            • Staging, Grading, & Classification

                              • Gross Pathologic & Surgical Features

                                • Microscopic Features

                                  CLINICAL ISSUES

                                  • Presentation

                                    • Demographics

                                      • Natural History & Prognosis

                                        • Treatment

                                          DIAGNOSTIC CHECKLIST

                                          • Consider

                                            • Image Interpretation Pearls

                                              Selected References

                                              1. Gómez Varela C et al: Radiological findings in autosomal recessive infantile osteopetrosis. Reumatol Clin. 15(6):e153-5, 2019
                                              2. Ahmadpour A et al: Cervical spine fractures in osteopetrosis: a case report and review of the literature. J Biomed Res. 32(1):68-76, 2018
                                              3. Rathod AK et al: Traumatic multiple cervical spine injuries in a patient with osteopetrosis and its management. Eur Spine J. 26(Suppl 1):229-35, 2017
                                              4. Shigenobu K et al: Rugger-jersey spine in osteopetrosis. BMJ Case Rep. 2017:bcr2017220275, 2017
                                              5. Sobacchi C et al: Osteopetrosis: genetics, treatment and new insights into osteoclast function. Nat Rev Endocrinol. 9(9):522-36, 2013
                                              6. Mohapatra B et al: Multiple lumbar pedicle fractures in osteopetrosis: a case report. Spine (Phila Pa 1976). 35(8):E311-5, 2010
                                              7. Martin D et al: Infantile osteopetrosis on head CT. Pediatr Radiol. 39(3):308, 2009
                                              8. Saluja S et al: Osteopetrosis: a rare cause of anemia--review of literature. Indian J Pathol Microbiol. 52(3):363-7, 2009
                                              9. Askmyr MK et al: Towards a better understanding and new therapeutics of osteopetrosis. Br J Haematol. 140(6):597-609, 2008
                                              10. Del Fattore A et al: Genetics, pathogenesis and complications of osteopetrosis. Bone. 42(1):19-29, 2008
                                              11. Castellano Chiodo D et al: Neuroimaging findings in malignant infantile osteopetrosis due to OSTM1 mutations. Neuropediatrics. 38(3):154-6, 2007
                                              12. Kocher MS et al: Osteopetrosis. Am J Orthop. 32(5):222-8, 2003
                                              13. Steward CG: Neurological aspects of osteopetrosis. Neuropathol Appl Neurobiol. 29(2):87-97, 2003
                                              14. Senel K et al: Type II autosomal dominant osteopetrosis. Rheumatol Int. 22(3):116-8, 2002
                                              15. Stoker DJ: Osteopetrosis. Semin Musculoskelet Radiol. 6(4):299-305, 2002
                                              16. Cheow HK et al: Imaging of malignant infantile osteopetrosis before and after bone marrow transplantation. Pediatr Radiol. 31(12):869-75, 2001
                                              Related Anatomy
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                                              Related Differential Diagnoses
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                                              References
                                              Tables

                                              Tables

                                              KEY FACTS

                                              • Terminology

                                                • Imaging

                                                  • Top Differential Diagnoses

                                                    • Pathology

                                                      • Clinical Issues

                                                        • Diagnostic Checklist

                                                          TERMINOLOGY

                                                          • Synonyms

                                                            • Marble bone disease
                                                          • Definitions

                                                            • Heterogeneous grouping of hereditary osteoclast disorders
                                                            • Multiple autosomal dominant and recessive forms

                                                          IMAGING

                                                          • General Features

                                                            • Radiographic Findings

                                                              • CT Findings

                                                                • MR Findings

                                                                  • Imaging Recommendations

                                                                    DIFFERENTIAL DIAGNOSIS

                                                                      PATHOLOGY

                                                                      • General Features

                                                                        • Staging, Grading, & Classification

                                                                          • Gross Pathologic & Surgical Features

                                                                            • Microscopic Features

                                                                              CLINICAL ISSUES

                                                                              • Presentation

                                                                                • Demographics

                                                                                  • Natural History & Prognosis

                                                                                    • Treatment

                                                                                      DIAGNOSTIC CHECKLIST

                                                                                      • Consider

                                                                                        • Image Interpretation Pearls

                                                                                          Selected References

                                                                                          1. Gómez Varela C et al: Radiological findings in autosomal recessive infantile osteopetrosis. Reumatol Clin. 15(6):e153-5, 2019
                                                                                          2. Ahmadpour A et al: Cervical spine fractures in osteopetrosis: a case report and review of the literature. J Biomed Res. 32(1):68-76, 2018
                                                                                          3. Rathod AK et al: Traumatic multiple cervical spine injuries in a patient with osteopetrosis and its management. Eur Spine J. 26(Suppl 1):229-35, 2017
                                                                                          4. Shigenobu K et al: Rugger-jersey spine in osteopetrosis. BMJ Case Rep. 2017:bcr2017220275, 2017
                                                                                          5. Sobacchi C et al: Osteopetrosis: genetics, treatment and new insights into osteoclast function. Nat Rev Endocrinol. 9(9):522-36, 2013
                                                                                          6. Mohapatra B et al: Multiple lumbar pedicle fractures in osteopetrosis: a case report. Spine (Phila Pa 1976). 35(8):E311-5, 2010
                                                                                          7. Martin D et al: Infantile osteopetrosis on head CT. Pediatr Radiol. 39(3):308, 2009
                                                                                          8. Saluja S et al: Osteopetrosis: a rare cause of anemia--review of literature. Indian J Pathol Microbiol. 52(3):363-7, 2009
                                                                                          9. Askmyr MK et al: Towards a better understanding and new therapeutics of osteopetrosis. Br J Haematol. 140(6):597-609, 2008
                                                                                          10. Del Fattore A et al: Genetics, pathogenesis and complications of osteopetrosis. Bone. 42(1):19-29, 2008
                                                                                          11. Castellano Chiodo D et al: Neuroimaging findings in malignant infantile osteopetrosis due to OSTM1 mutations. Neuropediatrics. 38(3):154-6, 2007
                                                                                          12. Kocher MS et al: Osteopetrosis. Am J Orthop. 32(5):222-8, 2003
                                                                                          13. Steward CG: Neurological aspects of osteopetrosis. Neuropathol Appl Neurobiol. 29(2):87-97, 2003
                                                                                          14. Senel K et al: Type II autosomal dominant osteopetrosis. Rheumatol Int. 22(3):116-8, 2002
                                                                                          15. Stoker DJ: Osteopetrosis. Semin Musculoskelet Radiol. 6(4):299-305, 2002
                                                                                          16. Cheow HK et al: Imaging of malignant infantile osteopetrosis before and after bone marrow transplantation. Pediatr Radiol. 31(12):869-75, 2001