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Osteopetrosis
Cheryl A. Petersilge, MD, MBA
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KEY FACTS

  • Terminology

    • Imaging

      • Top Differential Diagnoses

        • Pathology

          • Clinical Issues

            TERMINOLOGY

            • Abbreviations

              • Autosomal recessive osteopetrosis (AROP)
              • Autosomal dominant osteopetrosis (ADOP)
            • Synonyms

              • Albers-Schönberg disease
              • Marble bone disease
            • Definitions

              • Malignant (infantile) type
              • Benign (adult) type
              • Intermediate type
              • Carbonic anhydrase isoenzyme type II deficiency (Sly disease)

            IMAGING

            • General Features

              • Imaging Recommendations

                • Radiographic Findings

                  • CT Findings

                    • MR Findings

                      • Nuclear Medicine Findings

                        DIFFERENTIAL DIAGNOSIS

                          PATHOLOGY

                          • General Features

                            • Microscopic Features

                              CLINICAL ISSUES

                              • Presentation

                                • Demographics

                                  • Natural History & Prognosis

                                    • Treatment

                                      Selected References

                                      1. Florido Angulo A et al: The sandwich vertebral body sign. Osteopetrosis: Report of a case. Arthritis Rheumatol. Jun;67(6):1686, 2015
                                      2. Machado Cde V et al: Infantile osteopetrosis associated with osteomyelitis. BMJ Case Rep, 2015
                                      3. van Hove RP et al: Autosomal dominant type I osteopetrosis is related with iatrogenic fractures in arthroplasty. Clin Orthop Surg. 6(4):484-8, 2014
                                      4. Jenkins PF et al: Osteopetrosis. Am Orthopt J. 63:107-11, 2013
                                      5. Nour M et al: Infantile malignant osteopetrosis. J Pediatr. 163(4):1230-1230.e1, 2013
                                      6. Fotiadou A et al: Type II autosomal dominant osteopetrosis: radiological features in two families containing five members with asymptomatic and uncomplicated disease. Skeletal Radiol. 38(10):1015-21, 2009
                                      7. Stark Z et al: Osteopetrosis. Orphanet J Rare Dis. 4:5, 2009
                                      8. Tolar J et al: Osteopetrosis. N Engl J Med. 351(27):2839-49, 2004
                                      9. Curé JK et al: Cranial MR imaging of osteopetrosis. AJNR Am J Neuroradiol. 21(6):1110-5, 2000
                                      10. Andersen PE Jr et al: Heterogeneity of autosomal dominant osteopetrosis. Radiology. 164(1):223-5, 1987
                                      11. Rao VM et al: Osteopetrosis: MR characteristics at 1.5 T. Radiology. 161(1):217-20, 1986
                                      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

                                                TERMINOLOGY

                                                • Abbreviations

                                                  • Autosomal recessive osteopetrosis (AROP)
                                                  • Autosomal dominant osteopetrosis (ADOP)
                                                • Synonyms

                                                  • Albers-Schönberg disease
                                                  • Marble bone disease
                                                • Definitions

                                                  • Malignant (infantile) type
                                                  • Benign (adult) type
                                                  • Intermediate type
                                                  • Carbonic anhydrase isoenzyme type II deficiency (Sly disease)

                                                IMAGING

                                                • General Features

                                                  • Imaging Recommendations

                                                    • Radiographic Findings

                                                      • CT Findings

                                                        • MR Findings

                                                          • Nuclear Medicine Findings

                                                            DIFFERENTIAL DIAGNOSIS

                                                              PATHOLOGY

                                                              • General Features

                                                                • Microscopic Features

                                                                  CLINICAL ISSUES

                                                                  • Presentation

                                                                    • Demographics

                                                                      • Natural History & Prognosis

                                                                        • Treatment

                                                                          Selected References

                                                                          1. Florido Angulo A et al: The sandwich vertebral body sign. Osteopetrosis: Report of a case. Arthritis Rheumatol. Jun;67(6):1686, 2015
                                                                          2. Machado Cde V et al: Infantile osteopetrosis associated with osteomyelitis. BMJ Case Rep, 2015
                                                                          3. van Hove RP et al: Autosomal dominant type I osteopetrosis is related with iatrogenic fractures in arthroplasty. Clin Orthop Surg. 6(4):484-8, 2014
                                                                          4. Jenkins PF et al: Osteopetrosis. Am Orthopt J. 63:107-11, 2013
                                                                          5. Nour M et al: Infantile malignant osteopetrosis. J Pediatr. 163(4):1230-1230.e1, 2013
                                                                          6. Fotiadou A et al: Type II autosomal dominant osteopetrosis: radiological features in two families containing five members with asymptomatic and uncomplicated disease. Skeletal Radiol. 38(10):1015-21, 2009
                                                                          7. Stark Z et al: Osteopetrosis. Orphanet J Rare Dis. 4:5, 2009
                                                                          8. Tolar J et al: Osteopetrosis. N Engl J Med. 351(27):2839-49, 2004
                                                                          9. Curé JK et al: Cranial MR imaging of osteopetrosis. AJNR Am J Neuroradiol. 21(6):1110-5, 2000
                                                                          10. Andersen PE Jr et al: Heterogeneity of autosomal dominant osteopetrosis. Radiology. 164(1):223-5, 1987
                                                                          11. Rao VM et al: Osteopetrosis: MR characteristics at 1.5 T. Radiology. 161(1):217-20, 1986