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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 osteoporosis and fractures
              • 90% of cases due to abnormalities in type I collagen (COL1A1, COL1A2)
            • 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. Ashby E et al: Functional outcome of humeral rodding in children with osteogenesis imperfecta. J Pediatr Orthop. ePub, 2016
                                    2. Cozzolino M et al: Management of osteogenesis imperfecta type I in pregnancy; a review of literature applied to clinical practice. Arch Gynecol Obstet. ePub, 2016
                                    3. Reyes C et al: Risks and benefits of bisphosphonate therapies. J Cell Biochem. 117(1):20-8, 2016
                                    4. Forlino A et al: Osteogenesis imperfecta. Lancet. ePub, 2015
                                    5. Pereira EM: Clinical perspectives on osteogenesis imperfecta versus non-accidental injury. Am J Med Genet C Semin Med Genet. 169(4):302-6, 2015
                                    6. Shaker JL et al: Recent developments in osteogenesis imperfecta. F1000Res. 4(F1000 Faculty Rev):681, 2015
                                    7. Van Dijk FS et al: Osteogenesis imperfecta: clinical diagnosis, nomenclature and severity assessment. Am J Med Genet A. 164A(6):1470-81, 2014
                                    8. 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
                                    9. 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
                                    10. 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
                                    11. Cubert R et al: Osteogenesis imperfecta: mode of delivery and neonatal outcome. Obstet Gynecol. 97(1):66-9, 2001
                                    12. Sarathchandra P et al: A light and electron microscopic study of osteogenesis imperfecta bone samples, with reference to collagen chemistry and clinical phenotype. J Pathol. 192(3):385-95, 2000
                                    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 osteoporosis and fractures
                                                • 90% of cases due to abnormalities in type I collagen (COL1A1, COL1A2)
                                              • 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. Ashby E et al: Functional outcome of humeral rodding in children with osteogenesis imperfecta. J Pediatr Orthop. ePub, 2016
                                                                      2. Cozzolino M et al: Management of osteogenesis imperfecta type I in pregnancy; a review of literature applied to clinical practice. Arch Gynecol Obstet. ePub, 2016
                                                                      3. Reyes C et al: Risks and benefits of bisphosphonate therapies. J Cell Biochem. 117(1):20-8, 2016
                                                                      4. Forlino A et al: Osteogenesis imperfecta. Lancet. ePub, 2015
                                                                      5. Pereira EM: Clinical perspectives on osteogenesis imperfecta versus non-accidental injury. Am J Med Genet C Semin Med Genet. 169(4):302-6, 2015
                                                                      6. Shaker JL et al: Recent developments in osteogenesis imperfecta. F1000Res. 4(F1000 Faculty Rev):681, 2015
                                                                      7. Van Dijk FS et al: Osteogenesis imperfecta: clinical diagnosis, nomenclature and severity assessment. Am J Med Genet A. 164A(6):1470-81, 2014
                                                                      8. 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
                                                                      9. 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
                                                                      10. 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
                                                                      11. Cubert R et al: Osteogenesis imperfecta: mode of delivery and neonatal outcome. Obstet Gynecol. 97(1):66-9, 2001
                                                                      12. Sarathchandra P et al: A light and electron microscopic study of osteogenesis imperfecta bone samples, with reference to collagen chemistry and clinical phenotype. J Pathol. 192(3):385-95, 2000