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Molar Tooth Malformations (Joubert)
Charles Raybaud, MD, FRCPC; Anne G. Osborn, MD, FACR
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KEY FACTS

  • Terminology

    • Imaging

      • Top Differential Diagnoses

        • Pathology

          • Clinical Issues

            TERMINOLOGY

            • Abbreviations

              • Molar tooth malformation (MTM)
              • Joubert syndrome and related disorders (JSRD)
                • Include Joubert, Dekaban-Arima, COACH, Senior-Loken, Varadi-Papp, Joubert-polymicrogyria syndromes
                • New genes/syndromes with MTM continue to be described
                • JSRD considered as ciliopathy
            • Definitions

              • Hindbrain anomaly characterized by dysmorphic vermis, thick horizontal superior cerebellar peduncles (SCPs)
                • Sagittal clefting of cerebellar vermis
                • Abnormal brainstem nuclei
                • SCPs, central pontine tracts, corticospinal tracts do not decussate

            IMAGING

            • General Features

              • CT Findings

                • MR Findings

                  • Ultrasonographic 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

                                          Selected References

                                          1. Chapman T et al: Diagnostic imaging of posterior fossa anomalies in the fetus and neonate: part 2, posterior fossa disorders. Clin Imaging. 39(2):167-175, 2015
                                          2. Hsu CC et al: High-Resolution Diffusion Tensor Imaging and Tractography in Joubert Syndrome: Beyond Molar Tooth Sign. Pediatr Neurol. ePub, 2015
                                          3. Huppke P et al: Tectonic gene mutations in patients with Joubert syndrome. Eur J Hum Genet. 23(5):616-20, 2015
                                          4. Van Battum EY et al: Axon guidance proteins in neurological disorders. Lancet Neurol. 14(5):532-546, 2015
                                          5. Akizu N et al: Mutations in CSPP1 lead to classical Joubert syndrome. Am J Hum Genet. 94(1):80-6, 2014
                                          6. Poretti A et al: The molar tooth sign is pathognomonic for Joubert syndrome! Pediatr Neurol. 50(6):e15-6, 2014
                                          7. Romani M et al: Joubert syndrome: congenital cerebellar ataxia with the molar tooth. Lancet Neurol. 12(9):894-905, 2013
                                          8. Simms RJ et al: Modelling a ciliopathy: Ahi1 knockdown in model systems reveals an essential role in brain, retinal, and renal development. Cell Mol Life Sci. 69(6):993-1009, 2012
                                          9. Lee JE et al: Cilia in the nervous system: linking cilia function and neurodevelopmental disorders. Curr Opin Neurol. 24(2):98-105, 2011
                                          10. Poretti A et al: Joubert syndrome and related disorders: spectrum of neuroimaging findings in 75 patients. AJNR Am J Neuroradiol. 32(8):1459-63, 2011
                                          11. Saleem SN et al: Prenatal magnetic resonance imaging diagnosis of molar tooth sign at 17 to 18 weeks of gestation in two fetuses at risk for Joubert syndrome and related cerebellar disorders. Neuropediatrics. 42(1):35-8, 2011
                                          12. Sattar S et al: The ciliopathies in neuronal development: a clinical approach to investigation of Joubert syndrome and Joubert syndrome-related disorders. Dev Med Child Neurol. 53(9):793-8, 2011
                                          13. Zaki MS et al: The molar tooth sign: a new Joubert syndrome and related cerebellar disorders classification system tested in Egyptian families. Neurology. 70(7):556-65, 2008
                                          14. Fluss J et al: Molar tooth sign in fetal brain magnetic resonance imaging leading to the prenatal diagnosis of Joubert syndrome and related disorders. J Child Neurol. 21(4):320-4, 2006
                                          15. Widjaja E et al: Diffusion tensor imaging of midline posterior fossa malformations. Pediatr Radiol. 36(6):510-7, 2006
                                          16. Chodirker BN et al: Another case of Varadi-Papp syndrome with a molar tooth sign. Am J Med Genet A. 136A(4):416-7, 2005
                                          17. Valente EM et al: Distinguishing the four genetic causes of Jouberts syndrome-related disorders. Ann Neurol. 57(4):513-9, 2005
                                          18. Gleeson JG et al: Molar tooth sign of the midbrain-hindbrain junction: occurrence in multiple distinct syndromes. Am J Med Genet A. 125(2):125-34; discussion 117, 2004
                                          19. Kumandas S et al: Joubert syndrome: review and report of seven new cases. Eur J Neurol. 11(8):505-10, 2004
                                          20. Valente EM et al: Description, nomenclature, and mapping of a novel cerebello-renal syndrome with the molar tooth malformation. Am J Hum Genet. 73(3):663-70, 2003
                                          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

                                                      • Molar tooth malformation (MTM)
                                                      • Joubert syndrome and related disorders (JSRD)
                                                        • Include Joubert, Dekaban-Arima, COACH, Senior-Loken, Varadi-Papp, Joubert-polymicrogyria syndromes
                                                        • New genes/syndromes with MTM continue to be described
                                                        • JSRD considered as ciliopathy
                                                    • Definitions

                                                      • Hindbrain anomaly characterized by dysmorphic vermis, thick horizontal superior cerebellar peduncles (SCPs)
                                                        • Sagittal clefting of cerebellar vermis
                                                        • Abnormal brainstem nuclei
                                                        • SCPs, central pontine tracts, corticospinal tracts do not decussate

                                                    IMAGING

                                                    • General Features

                                                      • CT Findings

                                                        • MR Findings

                                                          • Ultrasonographic 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

                                                                                  Selected References

                                                                                  1. Chapman T et al: Diagnostic imaging of posterior fossa anomalies in the fetus and neonate: part 2, posterior fossa disorders. Clin Imaging. 39(2):167-175, 2015
                                                                                  2. Hsu CC et al: High-Resolution Diffusion Tensor Imaging and Tractography in Joubert Syndrome: Beyond Molar Tooth Sign. Pediatr Neurol. ePub, 2015
                                                                                  3. Huppke P et al: Tectonic gene mutations in patients with Joubert syndrome. Eur J Hum Genet. 23(5):616-20, 2015
                                                                                  4. Van Battum EY et al: Axon guidance proteins in neurological disorders. Lancet Neurol. 14(5):532-546, 2015
                                                                                  5. Akizu N et al: Mutations in CSPP1 lead to classical Joubert syndrome. Am J Hum Genet. 94(1):80-6, 2014
                                                                                  6. Poretti A et al: The molar tooth sign is pathognomonic for Joubert syndrome! Pediatr Neurol. 50(6):e15-6, 2014
                                                                                  7. Romani M et al: Joubert syndrome: congenital cerebellar ataxia with the molar tooth. Lancet Neurol. 12(9):894-905, 2013
                                                                                  8. Simms RJ et al: Modelling a ciliopathy: Ahi1 knockdown in model systems reveals an essential role in brain, retinal, and renal development. Cell Mol Life Sci. 69(6):993-1009, 2012
                                                                                  9. Lee JE et al: Cilia in the nervous system: linking cilia function and neurodevelopmental disorders. Curr Opin Neurol. 24(2):98-105, 2011
                                                                                  10. Poretti A et al: Joubert syndrome and related disorders: spectrum of neuroimaging findings in 75 patients. AJNR Am J Neuroradiol. 32(8):1459-63, 2011
                                                                                  11. Saleem SN et al: Prenatal magnetic resonance imaging diagnosis of molar tooth sign at 17 to 18 weeks of gestation in two fetuses at risk for Joubert syndrome and related cerebellar disorders. Neuropediatrics. 42(1):35-8, 2011
                                                                                  12. Sattar S et al: The ciliopathies in neuronal development: a clinical approach to investigation of Joubert syndrome and Joubert syndrome-related disorders. Dev Med Child Neurol. 53(9):793-8, 2011
                                                                                  13. Zaki MS et al: The molar tooth sign: a new Joubert syndrome and related cerebellar disorders classification system tested in Egyptian families. Neurology. 70(7):556-65, 2008
                                                                                  14. Fluss J et al: Molar tooth sign in fetal brain magnetic resonance imaging leading to the prenatal diagnosis of Joubert syndrome and related disorders. J Child Neurol. 21(4):320-4, 2006
                                                                                  15. Widjaja E et al: Diffusion tensor imaging of midline posterior fossa malformations. Pediatr Radiol. 36(6):510-7, 2006
                                                                                  16. Chodirker BN et al: Another case of Varadi-Papp syndrome with a molar tooth sign. Am J Med Genet A. 136A(4):416-7, 2005
                                                                                  17. Valente EM et al: Distinguishing the four genetic causes of Jouberts syndrome-related disorders. Ann Neurol. 57(4):513-9, 2005
                                                                                  18. Gleeson JG et al: Molar tooth sign of the midbrain-hindbrain junction: occurrence in multiple distinct syndromes. Am J Med Genet A. 125(2):125-34; discussion 117, 2004
                                                                                  19. Kumandas S et al: Joubert syndrome: review and report of seven new cases. Eur J Neurol. 11(8):505-10, 2004
                                                                                  20. Valente EM et al: Description, nomenclature, and mapping of a novel cerebello-renal syndrome with the molar tooth malformation. Am J Hum Genet. 73(3):663-70, 2003