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Osteogenesis Imperfecta
B.J. Manaster, MD, PhD, FACR
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KEY FACTS

  • Terminology

    • Imaging

      • Clinical Issues

        TERMINOLOGY

        • Abbreviations

          • Osteogenesis imperfecta (OI)
        • Synonyms

          • "Brittle bone" disease, OI tarda or van der Hoeve (OI type I), OI perinatal lethal of Vrolik (OI type II), progressively deforming OI (OI type III), Lobstein or Ekman-Lobstein (OI type IV)
        • Definitions

          • Genetic defect in type I collagen resulting in multiple fractures with little trauma
          • Several subtypes: All have varying degrees of bone fragility, fractures, and deformities
            • Sillence classification is most commonly used
              • Based on clinical and radiological findings

        IMAGING

        • General Features

          • Imaging Recommendations

            • Radiographic Findings

              • CT Findings

                • MR Findings

                  • Ultrasonographic Findings

                    DIFFERENTIAL DIAGNOSIS

                      PATHOLOGY

                      • General Features

                        • Staging, Grading, & Classification

                          • Microscopic Features

                            CLINICAL ISSUES

                            • Presentation

                              • Demographics

                                • Natural History & Prognosis

                                  • Treatment

                                    DIAGNOSTIC CHECKLIST

                                    • Consider

                                      Selected References

                                      1. Anam EA et al: Osteotomy Healing in Children With Osteogenesis Imperfecta Receiving Bisphosphonate Treatment. J Bone Miner Res. ePub, 2015
                                      2. Lindahl K et al: Genetic epidemiology, prevalence, and genotype-phenotype correlations in the Swedish population with osteogenesis imperfecta. Eur J Hum Genet. ePub, 2015
                                      3. Palomo T et al: Intravenous Bisphosphonate Therapy of Young Children with Osteogenesis Imperfecta: Skeletal Findings during Follow Up Throughout the Growing Years. J Bone Miner Res. ePub, 2015
                                      4. Westgren M et al: Stem cell transplantation before birth - a realistic option for treatment of osteogenesis imperfecta? Prenat Diagn. ePub, 2015
                                      5. Radu A et al: Non-traumatic hypertrophic callus of the fibula mimicking osteosarcoma in osteogenesis imperfecta type V: a case report. Skeletal Radiol. 43(9):1333-6, 2014
                                      6. Kocijan R et al: Femoral geometric parameters and BMD measurements by DXA in adult patients with different types of osteogenesis imperfecta. Skeletal Radiol. 42(2):187-94, 2013
                                      7. Basel D et al: Osteogenesis imperfecta: recent findings shed new light on this once well-understood condition. Genet Med. 11(6):375-85, 2009
                                      8. Fritz JM et al: A fracture risk assessment model of the femur in children with osteogenesis imperfecta (OI) during gait. Med Eng Phys. 31(9):1043-8, 2009
                                      9. Hasegawa K et al: Growth of infants with osteogenesis imperfecta treated with bisphosphonate. Pediatr Int. 51(1):54-8, 2009
                                      10. Undale AH et al: Mesenchymal stem cells for bone repair and metabolic bone diseases. Mayo Clin Proc. 84(10):893-902, 2009
                                      11. van Dijk FS et al: PPIB mutations cause severe osteogenesis imperfecta. Am J Hum Genet. 85(4):521-7, 2009
                                      12. Burnei G et al: Osteogenesis imperfecta: diagnosis and treatment. J Am Acad Orthop Surg. 16(6):356-66, 2008
                                      13. Phillipi CA et al: Bisphosphonate therapy for osteogenesis imperfecta. Cochrane Database Syst Rev. (4):CD005088, 2008
                                      14. Solopova A et al: Osteogenesis imperfecta type II: fetal magnetic resonance imaging findings. Fetal Diagn Ther. 24(4):361-7, 2008
                                      15. Ibrahim AG et al: Basilar impression and osteogenesis imperfecta: a 21-year retrospective review of outcomes in 20 patients. J Neurosurg Spine. 7(6):594-600, 2007
                                      16. Vieira RL et al: Hyperplastic callus formation in osteogenesis imperfecta type V mimicking osteosarcoma: 4-year follow-up with resolution. Skeletal Radiol. 35(6):402-5, 2006
                                      17. Resnick D: Diagnosis of Bone and Joint Disorders. 4th ed. Philadelphia: Saunders. 4398-4409, 2002
                                      Related Anatomy
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                                      Related Differential Diagnoses
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                                      References
                                      Tables

                                      Tables

                                      KEY FACTS

                                      • Terminology

                                        • Imaging

                                          • Clinical Issues

                                            TERMINOLOGY

                                            • Abbreviations

                                              • Osteogenesis imperfecta (OI)
                                            • Synonyms

                                              • "Brittle bone" disease, OI tarda or van der Hoeve (OI type I), OI perinatal lethal of Vrolik (OI type II), progressively deforming OI (OI type III), Lobstein or Ekman-Lobstein (OI type IV)
                                            • Definitions

                                              • Genetic defect in type I collagen resulting in multiple fractures with little trauma
                                              • Several subtypes: All have varying degrees of bone fragility, fractures, and deformities
                                                • Sillence classification is most commonly used
                                                  • Based on clinical and radiological findings

                                            IMAGING

                                            • General Features

                                              • Imaging Recommendations

                                                • Radiographic Findings

                                                  • CT Findings

                                                    • MR Findings

                                                      • Ultrasonographic Findings

                                                        DIFFERENTIAL DIAGNOSIS

                                                          PATHOLOGY

                                                          • General Features

                                                            • Staging, Grading, & Classification

                                                              • Microscopic Features

                                                                CLINICAL ISSUES

                                                                • Presentation

                                                                  • Demographics

                                                                    • Natural History & Prognosis

                                                                      • Treatment

                                                                        DIAGNOSTIC CHECKLIST

                                                                        • Consider

                                                                          Selected References

                                                                          1. Anam EA et al: Osteotomy Healing in Children With Osteogenesis Imperfecta Receiving Bisphosphonate Treatment. J Bone Miner Res. ePub, 2015
                                                                          2. Lindahl K et al: Genetic epidemiology, prevalence, and genotype-phenotype correlations in the Swedish population with osteogenesis imperfecta. Eur J Hum Genet. ePub, 2015
                                                                          3. Palomo T et al: Intravenous Bisphosphonate Therapy of Young Children with Osteogenesis Imperfecta: Skeletal Findings during Follow Up Throughout the Growing Years. J Bone Miner Res. ePub, 2015
                                                                          4. Westgren M et al: Stem cell transplantation before birth - a realistic option for treatment of osteogenesis imperfecta? Prenat Diagn. ePub, 2015
                                                                          5. Radu A et al: Non-traumatic hypertrophic callus of the fibula mimicking osteosarcoma in osteogenesis imperfecta type V: a case report. Skeletal Radiol. 43(9):1333-6, 2014
                                                                          6. Kocijan R et al: Femoral geometric parameters and BMD measurements by DXA in adult patients with different types of osteogenesis imperfecta. Skeletal Radiol. 42(2):187-94, 2013
                                                                          7. Basel D et al: Osteogenesis imperfecta: recent findings shed new light on this once well-understood condition. Genet Med. 11(6):375-85, 2009
                                                                          8. Fritz JM et al: A fracture risk assessment model of the femur in children with osteogenesis imperfecta (OI) during gait. Med Eng Phys. 31(9):1043-8, 2009
                                                                          9. Hasegawa K et al: Growth of infants with osteogenesis imperfecta treated with bisphosphonate. Pediatr Int. 51(1):54-8, 2009
                                                                          10. Undale AH et al: Mesenchymal stem cells for bone repair and metabolic bone diseases. Mayo Clin Proc. 84(10):893-902, 2009
                                                                          11. van Dijk FS et al: PPIB mutations cause severe osteogenesis imperfecta. Am J Hum Genet. 85(4):521-7, 2009
                                                                          12. Burnei G et al: Osteogenesis imperfecta: diagnosis and treatment. J Am Acad Orthop Surg. 16(6):356-66, 2008
                                                                          13. Phillipi CA et al: Bisphosphonate therapy for osteogenesis imperfecta. Cochrane Database Syst Rev. (4):CD005088, 2008
                                                                          14. Solopova A et al: Osteogenesis imperfecta type II: fetal magnetic resonance imaging findings. Fetal Diagn Ther. 24(4):361-7, 2008
                                                                          15. Ibrahim AG et al: Basilar impression and osteogenesis imperfecta: a 21-year retrospective review of outcomes in 20 patients. J Neurosurg Spine. 7(6):594-600, 2007
                                                                          16. Vieira RL et al: Hyperplastic callus formation in osteogenesis imperfecta type V mimicking osteosarcoma: 4-year follow-up with resolution. Skeletal Radiol. 35(6):402-5, 2006
                                                                          17. Resnick D: Diagnosis of Bone and Joint Disorders. 4th ed. Philadelphia: Saunders. 4398-4409, 2002