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Osteogenesis Imperfecta
Kevin R. Moore, MD; Jeffrey S. Ross, MD
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KEY FACTS

  • Terminology

    • Imaging

      • Top Differential Diagnoses

        • Pathology

          • Clinical Issues

            • Diagnostic Checklist

              TERMINOLOGY

              • Synonyms

                • Brittle bone disease
              • Definitions

                • Genetic disorder of type I collagen resulting in bone fragility
                • Classified into 4 types based on clinical, genetic, and radiographic criteria
                  • Severe forms: Bones short, thickened due to multiple fractures in utero and early childhood
                  • Milder forms: Bones thin and gracile

              IMAGING

              • General Features

                • Radiographic Findings

                  • CT Findings

                    • MR Findings

                      • Ultrasonographic Findings

                        • Nuclear Medicine Findings

                          • Other Modality 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

                                                  Selected References

                                                  1. Kashii M et al: Development of scoliosis in young children with osteogenesis imperfecta undergoing intravenous bisphosphonate therapy. J Bone Miner Metab. 37(3):545-53, 2019
                                                  2. Gardner A et al: The use of magnetically controlled growing rods in paediatric osteogenesis imperfecta with early onset, progressive scoliosis. J Surg Case Rep. 2018(3):rjy043, 2018
                                                  3. Liu G et al: The genetic implication of scoliosis in osteogenesis imperfecta: a review. J Spine Surg. 3(4):666-78, 2017
                                                  4. Persiani P et al: Association between spondylolisthesis and L5 fracture in patients with osteogenesis imperfecta. Eur Spine J. 26(12):3106-11, 2017
                                                  5. Wallace MJ et al: The spine in patients with osteogenesis imperfecta. J Am Acad Orthop Surg. 25(2):100-9, 2017
                                                  6. Costa FW et al: Clinical aspects, imaging features, and considerations on bisphosphonate-related osteonecrosis risk in a pediatric patient with osteogenesis imperfecta. Case Rep Dent. 2014:384292, 2014
                                                  7. Vardakastani V et al: Increased intra-cortical porosity reduces bone stiffness and strength in pediatric patients with osteogenesis imperfecta. Bone. 69:61-7, 2014
                                                  8. Mesfin A et al: Management of hangman's fractures and a subaxial compression fracture in two children with osteogenesis imperfecta. J Surg Orthop Adv. 22(4):326-9, 2013
                                                  9. Wekre LL et al: Spinal deformities and lung function in adults with osteogenesis imperfecta. Clin Respir J. Epub ahead of print, 2013
                                                  10. Khandanpour N et al: Craniospinal abnormalities and neurologic complications of osteogenesis imperfecta: imaging overview. Radiographics. 32(7):2101-12, 2012
                                                  11. Imagama S et al: Factors related to surgical outcome after posterior decompression and fusion for craniocervical junction lesions associated with osteogenesis imperfecta. Eur Spine J. 20 Suppl 2:S320-5, 2011
                                                  12. F├╝rstenberg CH et al: The role of kyphoplasty in the management of osteogenesis imperfecta: risk or benefit? Eur Spine J. 19 Suppl 2:S144-8, 2010
                                                  13. Leng LZ et al: Management of acute cervical compression fractures in two patients with osteogenesis imperfecta. Spine (Phila Pa 1976). 35(22):E1248-52, 2010
                                                  14. Rauch F et al: Relationship between genotype and skeletal phenotype in children and adolescents with osteogenesis imperfecta. J Bone Miner Res. 25(6):1367-74, 2010
                                                  15. Sasaki-Adams D et al: Neurosurgical implications of osteogenesis imperfecta in children. Report of 4 cases. J Neurosurg Pediatr. 1(3):229-36, 2008
                                                  16. 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
                                                  17. Daivajna S et al: Surgical management of severe cervical kyphosis with myelopathy in osteogenesis imperfecta: a case report. Spine (Phila Pa 1976). 30(7):E191-4, 2005
                                                  18. Moore MS et al: The role of dual energy x-ray absorptiometry in aiding the diagnosis of pediatric osteogenesis imperfecta. Am J Orthop. 27(12):797-801, 1998
                                                  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

                                                                • Brittle bone disease
                                                              • Definitions

                                                                • Genetic disorder of type I collagen resulting in bone fragility
                                                                • Classified into 4 types based on clinical, genetic, and radiographic criteria
                                                                  • Severe forms: Bones short, thickened due to multiple fractures in utero and early childhood
                                                                  • Milder forms: Bones thin and gracile

                                                              IMAGING

                                                              • General Features

                                                                • Radiographic Findings

                                                                  • CT Findings

                                                                    • MR Findings

                                                                      • Ultrasonographic Findings

                                                                        • Nuclear Medicine Findings

                                                                          • Other Modality 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

                                                                                                  Selected References

                                                                                                  1. Kashii M et al: Development of scoliosis in young children with osteogenesis imperfecta undergoing intravenous bisphosphonate therapy. J Bone Miner Metab. 37(3):545-53, 2019
                                                                                                  2. Gardner A et al: The use of magnetically controlled growing rods in paediatric osteogenesis imperfecta with early onset, progressive scoliosis. J Surg Case Rep. 2018(3):rjy043, 2018
                                                                                                  3. Liu G et al: The genetic implication of scoliosis in osteogenesis imperfecta: a review. J Spine Surg. 3(4):666-78, 2017
                                                                                                  4. Persiani P et al: Association between spondylolisthesis and L5 fracture in patients with osteogenesis imperfecta. Eur Spine J. 26(12):3106-11, 2017
                                                                                                  5. Wallace MJ et al: The spine in patients with osteogenesis imperfecta. J Am Acad Orthop Surg. 25(2):100-9, 2017
                                                                                                  6. Costa FW et al: Clinical aspects, imaging features, and considerations on bisphosphonate-related osteonecrosis risk in a pediatric patient with osteogenesis imperfecta. Case Rep Dent. 2014:384292, 2014
                                                                                                  7. Vardakastani V et al: Increased intra-cortical porosity reduces bone stiffness and strength in pediatric patients with osteogenesis imperfecta. Bone. 69:61-7, 2014
                                                                                                  8. Mesfin A et al: Management of hangman's fractures and a subaxial compression fracture in two children with osteogenesis imperfecta. J Surg Orthop Adv. 22(4):326-9, 2013
                                                                                                  9. Wekre LL et al: Spinal deformities and lung function in adults with osteogenesis imperfecta. Clin Respir J. Epub ahead of print, 2013
                                                                                                  10. Khandanpour N et al: Craniospinal abnormalities and neurologic complications of osteogenesis imperfecta: imaging overview. Radiographics. 32(7):2101-12, 2012
                                                                                                  11. Imagama S et al: Factors related to surgical outcome after posterior decompression and fusion for craniocervical junction lesions associated with osteogenesis imperfecta. Eur Spine J. 20 Suppl 2:S320-5, 2011
                                                                                                  12. F├╝rstenberg CH et al: The role of kyphoplasty in the management of osteogenesis imperfecta: risk or benefit? Eur Spine J. 19 Suppl 2:S144-8, 2010
                                                                                                  13. Leng LZ et al: Management of acute cervical compression fractures in two patients with osteogenesis imperfecta. Spine (Phila Pa 1976). 35(22):E1248-52, 2010
                                                                                                  14. Rauch F et al: Relationship between genotype and skeletal phenotype in children and adolescents with osteogenesis imperfecta. J Bone Miner Res. 25(6):1367-74, 2010
                                                                                                  15. Sasaki-Adams D et al: Neurosurgical implications of osteogenesis imperfecta in children. Report of 4 cases. J Neurosurg Pediatr. 1(3):229-36, 2008
                                                                                                  16. 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
                                                                                                  17. Daivajna S et al: Surgical management of severe cervical kyphosis with myelopathy in osteogenesis imperfecta: a case report. Spine (Phila Pa 1976). 30(7):E191-4, 2005
                                                                                                  18. Moore MS et al: The role of dual energy x-ray absorptiometry in aiding the diagnosis of pediatric osteogenesis imperfecta. Am J Orthop. 27(12):797-801, 1998