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Labyrinthine Aplasia
Caroline D. Robson, MBChB
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KEY FACTS

  • Terminology

    • Imaging

      • Top Differential Diagnoses

        • Pathology

          • Clinical Issues

            • Diagnostic Checklist

              TERMINOLOGY

              • Synonyms

                • Complete labyrinthine aplasia (CLA)
                • Michel anomaly (old term)
              • Definitions

                • Absent cochlea, vestibule, & semicircular canals (SCCs)

              IMAGING

              • General Features

                • CT Findings

                  • MR Findings

                    • Imaging Recommendations

                      DIFFERENTIAL DIAGNOSIS

                        PATHOLOGY

                        • General Features

                          • Gross Pathologic & Surgical Features

                            • Microscopic Features

                              CLINICAL ISSUES

                              • Presentation

                                • Demographics

                                  • Natural History & Prognosis

                                    • Treatment

                                      DIAGNOSTIC CHECKLIST

                                      • Consider

                                        • Image Interpretation Pearls

                                          • Reporting Tips

                                            Selected References

                                            1. Huang BY et al: Pediatric sensorineural hearing loss, part 1: Practical aspects for neuroradiologists. AJNR Am J Neuroradiol. 33(2):211-7, 2012
                                            2. Huang BY et al: Pediatric sensorineural hearing loss, part 2: syndromic and acquired causes. AJNR Am J Neuroradiol. 33(3):399-406, 2012
                                            3. Riazuddin S et al: Variable expressivity of FGF3 mutations associated with deafness and LAMM syndrome. BMC Med Genet. 12:21, 2011
                                            4. Sensi A et al: LAMM syndrome with middle ear dysplasia associated with compound heterozygosity for FGF3 mutations. Am J Med Genet A. 155A(5):1096-101, 2011
                                            5. Ozgen B et al: Complete labyrinthine aplasia: clinical and radiologic findings with review of the literature. AJNR Am J Neuroradiol. 30(4):774-80, 2009
                                            6. Bosley TM et al: The clinical spectrum of homozygous HOXA1 mutations. Am J Med Genet A. 146A(10):1235-40, 2008
                                            7. Tekin M et al: Homozygous mutations in fibroblast growth factor 3 are associated with a new form of syndromic deafness characterized by inner ear agenesis, microtia, and microdontia. Am J Hum Genet. 80(2):338-44, 2007
                                            8. Sennaroglu L et al: A new classification for cochleovestibular malformations. Laryngoscope. 112(12):2230-41, 2002
                                            9. Hersh JH et al: Michel's anomaly, type I microtia and microdontia. Ear Nose Throat J. 70(3):155-7, 1991
                                            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

                                                          • Complete labyrinthine aplasia (CLA)
                                                          • Michel anomaly (old term)
                                                        • Definitions

                                                          • Absent cochlea, vestibule, & semicircular canals (SCCs)

                                                        IMAGING

                                                        • General Features

                                                          • CT Findings

                                                            • MR Findings

                                                              • Imaging Recommendations

                                                                DIFFERENTIAL DIAGNOSIS

                                                                  PATHOLOGY

                                                                  • General Features

                                                                    • Gross Pathologic & Surgical Features

                                                                      • Microscopic Features

                                                                        CLINICAL ISSUES

                                                                        • Presentation

                                                                          • Demographics

                                                                            • Natural History & Prognosis

                                                                              • Treatment

                                                                                DIAGNOSTIC CHECKLIST

                                                                                • Consider

                                                                                  • Image Interpretation Pearls

                                                                                    • Reporting Tips

                                                                                      Selected References

                                                                                      1. Huang BY et al: Pediatric sensorineural hearing loss, part 1: Practical aspects for neuroradiologists. AJNR Am J Neuroradiol. 33(2):211-7, 2012
                                                                                      2. Huang BY et al: Pediatric sensorineural hearing loss, part 2: syndromic and acquired causes. AJNR Am J Neuroradiol. 33(3):399-406, 2012
                                                                                      3. Riazuddin S et al: Variable expressivity of FGF3 mutations associated with deafness and LAMM syndrome. BMC Med Genet. 12:21, 2011
                                                                                      4. Sensi A et al: LAMM syndrome with middle ear dysplasia associated with compound heterozygosity for FGF3 mutations. Am J Med Genet A. 155A(5):1096-101, 2011
                                                                                      5. Ozgen B et al: Complete labyrinthine aplasia: clinical and radiologic findings with review of the literature. AJNR Am J Neuroradiol. 30(4):774-80, 2009
                                                                                      6. Bosley TM et al: The clinical spectrum of homozygous HOXA1 mutations. Am J Med Genet A. 146A(10):1235-40, 2008
                                                                                      7. Tekin M et al: Homozygous mutations in fibroblast growth factor 3 are associated with a new form of syndromic deafness characterized by inner ear agenesis, microtia, and microdontia. Am J Hum Genet. 80(2):338-44, 2007
                                                                                      8. Sennaroglu L et al: A new classification for cochleovestibular malformations. Laryngoscope. 112(12):2230-41, 2002
                                                                                      9. Hersh JH et al: Michel's anomaly, type I microtia and microdontia. Ear Nose Throat J. 70(3):155-7, 1991