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Temporal Bone Osteogenesis Imperfecta
Philip R. Chapman, MD; Troy A. Hutchins, MD
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KEY FACTS

  • Terminology

    • Imaging

      • Top Differential Diagnoses

        • Pathology

          • Clinical Issues

            TERMINOLOGY

            • Abbreviations

              • Osteogenesis imperfecta (OI)
            • Synonyms

              • OI tarda = OI type I = Van der Hoeve-de Kleyn syndrome
            • Definitions

              • Inherited connective tissue disorder that affects collagen type I biosynthesis
              • Osteogenesis imperfecta (OI) represents heterogeneous group of diseases characterized by bone fragility, fractures, & deformity
              • Other manifestations of OI include blue sclerae, dentinogenesis imperfecta, & hearing loss

            IMAGING

            • General Features

              • Imaging Recommendations

                • Radiographic Findings

                  • CT Findings

                    • MR Findings

                      DIFFERENTIAL DIAGNOSIS

                        PATHOLOGY

                        • General Features

                          • Staging, Grading, & Classification

                            • Microscopic Features

                              CLINICAL ISSUES

                              • Presentation

                                • Demographics

                                  • Natural History & Prognosis

                                    • Treatment

                                      DIAGNOSTIC CHECKLIST

                                      • Consider

                                        • 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. Andreu-Arasa VC et al: Otosclerosis and dysplasias of the temporal bone. Neuroimaging Clin N Am. 29(1):29-47, 2019
                                          3. Carré F et al: Hearing impairment and osteogenesis imperfecta: literature review. Eur Ann Otorhinolaryngol Head Neck Dis. 136(5):379-83, 2019
                                          4. Quesnel AM et al: Otosclerosis: temporal bone pathology. Otolaryngol Clin North Am. 51(2):291-303, 2018
                                          5. Wolfovitz A et al: Impact of imaging in management of otosclerosis. Otolaryngol Clin North Am. 51(2):343-55, 2018
                                          6. Vincent R et al: Stapedotomy in osteogenesis imperfecta: a prospective study of 32 consecutive cases. Otol Neurotol. 35(10):1785-9, 2014
                                          7. Swinnen FK et al: Temporal bone imaging in osteogenesis imperfecta patients with hearing loss. Laryngoscope. 123(8):1988-95, 2013
                                          8. Fuller E et al: Case of the month #171: osteogenesis imperfecta of the temporal bone. Can Assoc Radiol J. 62(4):296-8, 2011
                                          9. Pillion JP et al: Hearing loss in osteogenesis imperfecta: characteristics and treatment considerations. Genet Res Int. 2011:983942, 2011
                                          10. Byers PH et al: Genetic evaluation of suspected osteogenesis imperfecta (OI). Genet Med. 8(6):383-8, 2006
                                          11. Alkadhi H et al: Osteogenesis imperfecta of the temporal bone: CT and MR imaging in Van der Hoeve-de Kleyn syndrome. AJNR Am J Neuroradiol. 25(6):1106-9, 2004
                                          12. Kuurila K et al: Hearing loss in children with osteogenesis imperfecta. Eur J Pediatr. 159(7):515-9, 2000
                                          13. Berger G et al: Histopathology of the temporal bone in osteogenesis imperfecta congenita: a report of 5 cases. Laryngoscope. 95(2):193-9, 1985
                                          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

                                                    TERMINOLOGY

                                                    • Abbreviations

                                                      • Osteogenesis imperfecta (OI)
                                                    • Synonyms

                                                      • OI tarda = OI type I = Van der Hoeve-de Kleyn syndrome
                                                    • Definitions

                                                      • Inherited connective tissue disorder that affects collagen type I biosynthesis
                                                      • Osteogenesis imperfecta (OI) represents heterogeneous group of diseases characterized by bone fragility, fractures, & deformity
                                                      • Other manifestations of OI include blue sclerae, dentinogenesis imperfecta, & hearing loss

                                                    IMAGING

                                                    • General Features

                                                      • Imaging Recommendations

                                                        • Radiographic Findings

                                                          • CT Findings

                                                            • MR Findings

                                                              DIFFERENTIAL DIAGNOSIS

                                                                PATHOLOGY

                                                                • General Features

                                                                  • Staging, Grading, & Classification

                                                                    • Microscopic Features

                                                                      CLINICAL ISSUES

                                                                      • Presentation

                                                                        • Demographics

                                                                          • Natural History & Prognosis

                                                                            • Treatment

                                                                              DIAGNOSTIC CHECKLIST

                                                                              • Consider

                                                                                • 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. Andreu-Arasa VC et al: Otosclerosis and dysplasias of the temporal bone. Neuroimaging Clin N Am. 29(1):29-47, 2019
                                                                                  3. Carré F et al: Hearing impairment and osteogenesis imperfecta: literature review. Eur Ann Otorhinolaryngol Head Neck Dis. 136(5):379-83, 2019
                                                                                  4. Quesnel AM et al: Otosclerosis: temporal bone pathology. Otolaryngol Clin North Am. 51(2):291-303, 2018
                                                                                  5. Wolfovitz A et al: Impact of imaging in management of otosclerosis. Otolaryngol Clin North Am. 51(2):343-55, 2018
                                                                                  6. Vincent R et al: Stapedotomy in osteogenesis imperfecta: a prospective study of 32 consecutive cases. Otol Neurotol. 35(10):1785-9, 2014
                                                                                  7. Swinnen FK et al: Temporal bone imaging in osteogenesis imperfecta patients with hearing loss. Laryngoscope. 123(8):1988-95, 2013
                                                                                  8. Fuller E et al: Case of the month #171: osteogenesis imperfecta of the temporal bone. Can Assoc Radiol J. 62(4):296-8, 2011
                                                                                  9. Pillion JP et al: Hearing loss in osteogenesis imperfecta: characteristics and treatment considerations. Genet Res Int. 2011:983942, 2011
                                                                                  10. Byers PH et al: Genetic evaluation of suspected osteogenesis imperfecta (OI). Genet Med. 8(6):383-8, 2006
                                                                                  11. Alkadhi H et al: Osteogenesis imperfecta of the temporal bone: CT and MR imaging in Van der Hoeve-de Kleyn syndrome. AJNR Am J Neuroradiol. 25(6):1106-9, 2004
                                                                                  12. Kuurila K et al: Hearing loss in children with osteogenesis imperfecta. Eur J Pediatr. 159(7):515-9, 2000
                                                                                  13. Berger G et al: Histopathology of the temporal bone in osteogenesis imperfecta congenita: a report of 5 cases. Laryngoscope. 95(2):193-9, 1985