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Osteogenesis Imperfecta
Janice L. B. Byrne, MD
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KEY FACTS

  • Terminology

    • Imaging

      • Top Differential Diagnoses

        • Clinical Issues

          TERMINOLOGY

          • Abbreviations

            • Osteogenesis imperfecta (OI)
          • Synonyms

            • "Brittle bone" disease
          • Definitions

            • Genetically and clinically heterogeneous group of connective tissue disorders presenting with osteopenia and fractures
              • 85-90% of cases due to abnormalities in type I collagen (COL1A1COL1A2) resulting in quantitative or qualitative defects in type I collagen
            • Historically, OI has been classified into 5 basic phenotypic groups (I-V) with clinical descriptors
            • Currently 17 different genetic causes of OI are known
            • Newer OI nomenclature further subdivides classic phenotypes
              • Phenotypes with mild to moderate severity (previously types I, IV, V)
              • Phenotypes that are progressively deforming and perinatally lethal (previously types II, III)

          IMAGING

          • General Features

            • Ultrasonographic Findings

              • Radiographic Findings

                • Imaging Recommendations

                  DIFFERENTIAL DIAGNOSIS

                    PATHOLOGY

                    • General Features

                      • Staging, Grading, & Classification

                        • Gross Pathologic & Surgical Features

                          CLINICAL ISSUES

                          • Presentation

                            • Demographics

                              • Natural History & Prognosis

                                • Treatment

                                  DIAGNOSTIC CHECKLIST

                                  • Image Interpretation Pearls

                                    Selected References

                                    1. Gug C et al: Rare splicing mutation in COL1A1 gene identified by whole exomes sequencing in a patient with osteogenesis imperfecta type I followed by prenatal diagnosis: a case report and review of the literature. Gene. 741:144565, 2020
                                    2. Chamunyonga F et al: Osteogenesis imperfecta and pregnancy: a case report. J Med Case Rep. 13(1):363, 2019
                                    3. Ashby E et al: Functional outcome of humeral rodding in children with osteogenesis imperfecta. J Pediatr Orthop. 38(1):49-53, 2018
                                    4. Bacon S et al: Developments in rare bone diseases and mineral disorders. Ther Adv Chronic Dis. 9(1):51-60, 2018
                                    5. Cozzolino M et al: Management of osteogenesis imperfecta type I in pregnancy; a review of literature applied to clinical practice. Arch Gynecol Obstet. 293(6):1153-9, 2016
                                    6. Reyes C et al: Risks and benefits of bisphosphonate therapies. J Cell Biochem. 117(1):20-8, 2016
                                    7. Thomas IH et al: Advances in the classification and treatment of osteogenesis imperfecta. Curr Osteoporos Rep. 14(1):1-9, 2016
                                    8. Yimgang DP et al: Pregnancy outcomes in women with osteogenesis imperfecta. J Matern Fetal Neonatal Med. 29(14):2358-62, 2016
                                    9. Forlino A et al: Osteogenesis imperfecta. Lancet. 387(10028):1657-71, 2015
                                    10. Pereira EM: Clinical perspectives on osteogenesis imperfecta versus non-accidental injury. Am J Med Genet C Semin Med Genet. 169(4):302-6, 2015
                                    11. Shaker JL et al: Recent developments in osteogenesis imperfecta. F1000Res. 4(F1000 Faculty Rev):681, 2015
                                    12. Van Dijk FS et al: Osteogenesis imperfecta: clinical diagnosis, nomenclature and severity assessment. Am J Med Genet A. 164A(6):1470-81, 2014
                                    13. Stevenson DA et al: Analysis of skeletal dysplasias in the Utah population. Am J Med Genet A. 158A(5):1046-54, 2012
                                    14. Alanay Y et al: Mutations in the gene encoding the RER protein FKBP65 cause autosomal-recessive osteogenesis imperfecta. Am J Hum Genet. 86(4):551-9, 2010
                                    15. Rauch F et al: Genotype-phenotype correlations in nonlethal osteogenesis imperfecta caused by mutations in the helical domain of collagen type I. Eur J Hum Genet. 18(6):642-7, 2010
                                    16. 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
                                    Related Anatomy
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                                    Related Differential Diagnoses
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                                    References
                                    Tables

                                    Tables

                                    KEY FACTS

                                    • Terminology

                                      • Imaging

                                        • Top Differential Diagnoses

                                          • Clinical Issues

                                            TERMINOLOGY

                                            • Abbreviations

                                              • Osteogenesis imperfecta (OI)
                                            • Synonyms

                                              • "Brittle bone" disease
                                            • Definitions

                                              • Genetically and clinically heterogeneous group of connective tissue disorders presenting with osteopenia and fractures
                                                • 85-90% of cases due to abnormalities in type I collagen (COL1A1COL1A2) resulting in quantitative or qualitative defects in type I collagen
                                              • Historically, OI has been classified into 5 basic phenotypic groups (I-V) with clinical descriptors
                                              • Currently 17 different genetic causes of OI are known
                                              • Newer OI nomenclature further subdivides classic phenotypes
                                                • Phenotypes with mild to moderate severity (previously types I, IV, V)
                                                • Phenotypes that are progressively deforming and perinatally lethal (previously types II, III)

                                            IMAGING

                                            • General Features

                                              • Ultrasonographic Findings

                                                • Radiographic Findings

                                                  • Imaging Recommendations

                                                    DIFFERENTIAL DIAGNOSIS

                                                      PATHOLOGY

                                                      • General Features

                                                        • Staging, Grading, & Classification

                                                          • Gross Pathologic & Surgical Features

                                                            CLINICAL ISSUES

                                                            • Presentation

                                                              • Demographics

                                                                • Natural History & Prognosis

                                                                  • Treatment

                                                                    DIAGNOSTIC CHECKLIST

                                                                    • Image Interpretation Pearls

                                                                      Selected References

                                                                      1. Gug C et al: Rare splicing mutation in COL1A1 gene identified by whole exomes sequencing in a patient with osteogenesis imperfecta type I followed by prenatal diagnosis: a case report and review of the literature. Gene. 741:144565, 2020
                                                                      2. Chamunyonga F et al: Osteogenesis imperfecta and pregnancy: a case report. J Med Case Rep. 13(1):363, 2019
                                                                      3. Ashby E et al: Functional outcome of humeral rodding in children with osteogenesis imperfecta. J Pediatr Orthop. 38(1):49-53, 2018
                                                                      4. Bacon S et al: Developments in rare bone diseases and mineral disorders. Ther Adv Chronic Dis. 9(1):51-60, 2018
                                                                      5. Cozzolino M et al: Management of osteogenesis imperfecta type I in pregnancy; a review of literature applied to clinical practice. Arch Gynecol Obstet. 293(6):1153-9, 2016
                                                                      6. Reyes C et al: Risks and benefits of bisphosphonate therapies. J Cell Biochem. 117(1):20-8, 2016
                                                                      7. Thomas IH et al: Advances in the classification and treatment of osteogenesis imperfecta. Curr Osteoporos Rep. 14(1):1-9, 2016
                                                                      8. Yimgang DP et al: Pregnancy outcomes in women with osteogenesis imperfecta. J Matern Fetal Neonatal Med. 29(14):2358-62, 2016
                                                                      9. Forlino A et al: Osteogenesis imperfecta. Lancet. 387(10028):1657-71, 2015
                                                                      10. Pereira EM: Clinical perspectives on osteogenesis imperfecta versus non-accidental injury. Am J Med Genet C Semin Med Genet. 169(4):302-6, 2015
                                                                      11. Shaker JL et al: Recent developments in osteogenesis imperfecta. F1000Res. 4(F1000 Faculty Rev):681, 2015
                                                                      12. Van Dijk FS et al: Osteogenesis imperfecta: clinical diagnosis, nomenclature and severity assessment. Am J Med Genet A. 164A(6):1470-81, 2014
                                                                      13. Stevenson DA et al: Analysis of skeletal dysplasias in the Utah population. Am J Med Genet A. 158A(5):1046-54, 2012
                                                                      14. Alanay Y et al: Mutations in the gene encoding the RER protein FKBP65 cause autosomal-recessive osteogenesis imperfecta. Am J Hum Genet. 86(4):551-9, 2010
                                                                      15. Rauch F et al: Genotype-phenotype correlations in nonlethal osteogenesis imperfecta caused by mutations in the helical domain of collagen type I. Eur J Hum Genet. 18(6):642-7, 2010
                                                                      16. 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