link
Bookmarks
Osteogenesis Imperfecta
Arthur B. Meyers, MD
To access 4,300 diagnoses written by the world's leading experts in radiology.Try it free - 15 days
0
17
24
1

KEY FACTS

  • Terminology

    • Imaging

      • Pathology

        • Clinical Issues

          • Diagnostic Checklist

            TERMINOLOGY

            • Abbreviations

              • Osteogenesis imperfecta (OI)
            • Synonyms

              • Van der Hoeve-de Kleyn syndrome, fragilitas ossium, osteopsathyrosis, Lobstein disease, Vrolik disease
            • Definitions

              • Group of clinically heterogeneous genetic disorders most often caused by type I collagen alterations
              • ↑ bone fragility → frequent fractures → malunion & bowing
                • Further ↑ likelihood of subsequent fractures
              • Dentinogenesis imperfecta: Soft, cracked, discolored teeth

            IMAGING

            • General Features

              • Radiographic Findings

                • Ultrasonographic Findings

                  • CT Findings

                    • MR Findings

                      • Nuclear Medicine Findings

                        • Imaging Recommendations

                          DIFFERENTIAL DIAGNOSIS

                            PATHOLOGY

                            • General Features

                              • Staging, Grading, & Classification

                                • Microscopic Features

                                  CLINICAL ISSUES

                                  • Demographics

                                    • Natural History & Prognosis

                                      • Treatment

                                        DIAGNOSTIC CHECKLIST

                                        • Image Interpretation Pearls

                                          Selected References

                                          1. Marom R et al: Osteogenesis imperfecta: an update on clinical features and therapies. Eur J Endocrinol. 183(4):R95-106, 2020
                                          2. Mortier GR et al: Nosology and classification of genetic skeletal disorders: 2019 revision. Am J Med Genet A. 179(12):2393-419, 2019
                                          3. Pereira EM: Clinical perspectives on osteogenesis imperfecta versus non-accidental injury. Am J Med Genet C Semin Med Genet. 169(4):302-6, 2015
                                          4. Anissipour AK et al: Behavior of scoliosis during growth in children with osteogenesis imperfecta. J Bone Joint Surg Am. 96(3):237-43, 2014
                                          5. Kim OH et al: Osteogenesis imperfecta type V: clinical and radiographic manifestations in mutation confirmed patients. Am J Med Genet A. 161A(8):1972-9, 2013
                                          6. Renaud A et al: Radiographic features of osteogenesis imperfecta. Insights Imaging. 4(4):417-29, 2013
                                          7. Akizawa Y et al: Prenatal diagnosis of osteogenesis imperfecta type II by three-dimensional computed tomography: the current state of fetal computed tomography. Congenit Anom (Kyoto). 52(4):203-6, 2012
                                          8. Bishop N: Characterising and treating osteogenesis imperfecta. Early Hum Dev. 86(11):743-6, 2010
                                          9. Van Dijk FS et al: Classification of osteogenesis imperfecta revisited. Eur J Med Genet. 53(1):1-5, 2010
                                          10. Shapiro JR et al: Osteogenesis imperfecta: questions and answers. Curr Opin Pediatr. 21(6):709-16, 2009
                                          11. Burnei G et al: Osteogenesis imperfecta: diagnosis and treatment. J Am Acad Orthop Surg. 16(6):356-66, 2008
                                          12. Cheung MS et al: Osteogenesis Imperfecta: update on presentation and management. Rev Endocr Metab Disord. 9(2):153-60, 2008
                                          13. Radfar L et al: Bisphosphonates, osteonecrosis of the jaw, and dental treatment recommendations. J Okla Dent Assoc. 99(7):28-9, 2008
                                          14. 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
                                          15. Martin E et al: Osteogenesis imperfecta:epidemiology and pathophysiology. Curr Osteoporos Rep. 5(3):91-7, 2007
                                          16. Plotkin H: Syndromes with congenital brittle bones. BMC Pediatr. 4(1):16, 2004
                                          17. Rauch F et al: Osteogenesis imperfecta. Lancet. 363(9418):1377-85, 2004
                                          18. Tamborlane JW et al: Osteogenesis imperfecta presenting as simultaneous bilateral tibial tubercle avulsion fractures in a child: a case report. J Pediatr Orthop. 24(6):620-2, 2004
                                          19. Albayram S et al: Abnormalities in the cerebral arterial system in osteogenesis imperfecta. AJNR Am J Neuroradiol. 24(4):748-50, 2003
                                          20. Grissom LE et al: Radiographic features of bisphosphonate therapy in pediatric patients. Pediatr Radiol. 33(4):226-9, 2003
                                          21. Zeitlin L et al: Modern approach to children with osteogenesis imperfecta. J Pediatr Orthop B. 12(2):77-87, 2003
                                          22. Violas P et al: Acetabular protrusion in osteogenesis imperfecta. J Pediatr Orthop. 22(5):622-5, 2002
                                          23. Basu PS et al: Spondylolisthesis in osteogenesis imperfecta due to pedicle elongation: report of two cases. Spine. 26(21):E506-9, 2001
                                          24. Ablin DS: Osteogenesis imperfecta: a review. Can Assoc Radiol J. 49(2):110-23, 1998
                                          25. Herman TE et al: Inherited diseases of bone density in children. Radiol Clin North Am. 29(1):149-64, 1991
                                          Related Anatomy
                                          Loading...
                                          Related Differential Diagnoses
                                          Loading...
                                          References
                                          Tables

                                          Tables

                                          KEY FACTS

                                          • Terminology

                                            • Imaging

                                              • Pathology

                                                • Clinical Issues

                                                  • Diagnostic Checklist

                                                    TERMINOLOGY

                                                    • Abbreviations

                                                      • Osteogenesis imperfecta (OI)
                                                    • Synonyms

                                                      • Van der Hoeve-de Kleyn syndrome, fragilitas ossium, osteopsathyrosis, Lobstein disease, Vrolik disease
                                                    • Definitions

                                                      • Group of clinically heterogeneous genetic disorders most often caused by type I collagen alterations
                                                      • ↑ bone fragility → frequent fractures → malunion & bowing
                                                        • Further ↑ likelihood of subsequent fractures
                                                      • Dentinogenesis imperfecta: Soft, cracked, discolored teeth

                                                    IMAGING

                                                    • General Features

                                                      • Radiographic Findings

                                                        • Ultrasonographic Findings

                                                          • CT Findings

                                                            • MR Findings

                                                              • Nuclear Medicine Findings

                                                                • Imaging Recommendations

                                                                  DIFFERENTIAL DIAGNOSIS

                                                                    PATHOLOGY

                                                                    • General Features

                                                                      • Staging, Grading, & Classification

                                                                        • Microscopic Features

                                                                          CLINICAL ISSUES

                                                                          • Demographics

                                                                            • Natural History & Prognosis

                                                                              • Treatment

                                                                                DIAGNOSTIC CHECKLIST

                                                                                • Image Interpretation Pearls

                                                                                  Selected References

                                                                                  1. Marom R et al: Osteogenesis imperfecta: an update on clinical features and therapies. Eur J Endocrinol. 183(4):R95-106, 2020
                                                                                  2. Mortier GR et al: Nosology and classification of genetic skeletal disorders: 2019 revision. Am J Med Genet A. 179(12):2393-419, 2019
                                                                                  3. Pereira EM: Clinical perspectives on osteogenesis imperfecta versus non-accidental injury. Am J Med Genet C Semin Med Genet. 169(4):302-6, 2015
                                                                                  4. Anissipour AK et al: Behavior of scoliosis during growth in children with osteogenesis imperfecta. J Bone Joint Surg Am. 96(3):237-43, 2014
                                                                                  5. Kim OH et al: Osteogenesis imperfecta type V: clinical and radiographic manifestations in mutation confirmed patients. Am J Med Genet A. 161A(8):1972-9, 2013
                                                                                  6. Renaud A et al: Radiographic features of osteogenesis imperfecta. Insights Imaging. 4(4):417-29, 2013
                                                                                  7. Akizawa Y et al: Prenatal diagnosis of osteogenesis imperfecta type II by three-dimensional computed tomography: the current state of fetal computed tomography. Congenit Anom (Kyoto). 52(4):203-6, 2012
                                                                                  8. Bishop N: Characterising and treating osteogenesis imperfecta. Early Hum Dev. 86(11):743-6, 2010
                                                                                  9. Van Dijk FS et al: Classification of osteogenesis imperfecta revisited. Eur J Med Genet. 53(1):1-5, 2010
                                                                                  10. Shapiro JR et al: Osteogenesis imperfecta: questions and answers. Curr Opin Pediatr. 21(6):709-16, 2009
                                                                                  11. Burnei G et al: Osteogenesis imperfecta: diagnosis and treatment. J Am Acad Orthop Surg. 16(6):356-66, 2008
                                                                                  12. Cheung MS et al: Osteogenesis Imperfecta: update on presentation and management. Rev Endocr Metab Disord. 9(2):153-60, 2008
                                                                                  13. Radfar L et al: Bisphosphonates, osteonecrosis of the jaw, and dental treatment recommendations. J Okla Dent Assoc. 99(7):28-9, 2008
                                                                                  14. 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
                                                                                  15. Martin E et al: Osteogenesis imperfecta:epidemiology and pathophysiology. Curr Osteoporos Rep. 5(3):91-7, 2007
                                                                                  16. Plotkin H: Syndromes with congenital brittle bones. BMC Pediatr. 4(1):16, 2004
                                                                                  17. Rauch F et al: Osteogenesis imperfecta. Lancet. 363(9418):1377-85, 2004
                                                                                  18. Tamborlane JW et al: Osteogenesis imperfecta presenting as simultaneous bilateral tibial tubercle avulsion fractures in a child: a case report. J Pediatr Orthop. 24(6):620-2, 2004
                                                                                  19. Albayram S et al: Abnormalities in the cerebral arterial system in osteogenesis imperfecta. AJNR Am J Neuroradiol. 24(4):748-50, 2003
                                                                                  20. Grissom LE et al: Radiographic features of bisphosphonate therapy in pediatric patients. Pediatr Radiol. 33(4):226-9, 2003
                                                                                  21. Zeitlin L et al: Modern approach to children with osteogenesis imperfecta. J Pediatr Orthop B. 12(2):77-87, 2003
                                                                                  22. Violas P et al: Acetabular protrusion in osteogenesis imperfecta. J Pediatr Orthop. 22(5):622-5, 2002
                                                                                  23. Basu PS et al: Spondylolisthesis in osteogenesis imperfecta due to pedicle elongation: report of two cases. Spine. 26(21):E506-9, 2001
                                                                                  24. Ablin DS: Osteogenesis imperfecta: a review. Can Assoc Radiol J. 49(2):110-23, 1998
                                                                                  25. Herman TE et al: Inherited diseases of bone density in children. Radiol Clin North Am. 29(1):149-64, 1991