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Pediatrics
Diagnosis
Pediatric Neuroradiology
Brain
Pathology-Based Diagnoses
Congenital Malformations
Hindbrain Malformations
Molar Tooth Malformations (Joubert)
Molar Tooth Malformations (Joubert)
Luke L. Linscott, MD; Charles Raybaud, MD, FRCPC; Anne G. Osborn, MD, FACR
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KEY FACTS

  • Terminology

    • Imaging

      • Top Differential Diagnoses

        • Pathology

          • Clinical Issues

            • Diagnostic Checklist

              TERMINOLOGY

              • Abbreviations

                • Molar tooth malformation (MTM)
                • Joubert syndrome and related disorders (JSRD)
                  • Include Joubert, Dekaban-Arima, COACH, Senior-Loken, Varadi-Papp, Joubert-polymicrogyria syndromes, oral-digital-facial syndrome
                  • 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. Aljeaid D et al: A novel pathogenic variant in OFD1 results in X-linked Joubert syndrome with orofaciodigital features and pituitary aplasia. Am J Med Genet A. 179(6):1010-4, 2019
                                            2. Hardee I et al: Defective ciliogenesis in INPP5E-related Joubert syndrome. Am J Med Genet A. 173(12):3231-7, 2017
                                            3. Poretti A et al: Joubert syndrome: neuroimaging findings in 110 patients in correlation with cognitive function and genetic cause. J Med Genet. 54(8):521-9, 2017
                                            4. Vilboux T et al: Molecular genetic findings and clinical correlations in 100 patients with Joubert syndrome and related disorders prospectively evaluated at a single center. Genet Med. 19(8):875-82, 2017
                                            5. Quarello E: Enlarged intracranial translucency and molar tooth sign in the first trimester as features of Joubert syndrome and related disorders. Ultrasound Obstet Gynecol. 48(4):532-4, 2016
                                            6. Chapman T et al: Diagnostic imaging of posterior fossa anomalies in the fetus and neonate: part 2, posterior fossa disorders. Clin Imaging. 39(2):167-75, 2015
                                            7. Hsu CC et al: High-resolution diffusion tensor imaging and tractography in Joubert syndrome: Beyond molar tooth sign. Pediatr Neurol. 53(1):47-52, 2015
                                            8. Huppke P et al: Tectonic gene mutations in patients with Joubert syndrome. Eur J Hum Genet. 23(5):616-20, 2015
                                            9. Van Battum EY et al: Axon guidance proteins in neurological disorders. Lancet Neurol. 14(5):532-46, 2015
                                            10. Akizu N et al: Mutations in CSPP1 lead to classical Joubert syndrome. Am J Hum Genet. 94(1):80-6, 2014
                                            11. Poretti A et al: The molar tooth sign is pathognomonic for Joubert syndrome! Pediatr Neurol. 50(6):e15-6, 2014
                                            12. Romani M et al: Joubert syndrome: congenital cerebellar ataxia with the molar tooth. Lancet Neurol. 12(9):894-905, 2013
                                            13. 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
                                            14. Lee JE et al: Cilia in the nervous system: linking cilia function and neurodevelopmental disorders. Curr Opin Neurol. 24(2):98-105, 2011
                                            15. 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
                                            16. 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
                                            17. 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
                                            18. 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
                                            19. 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
                                            20. Widjaja E et al: Diffusion tensor imaging of midline posterior fossa malformations. Pediatr Radiol. 36(6):510-7, 2006
                                            21. 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
                                            22. Valente EM et al: Distinguishing the four genetic causes of Jouberts syndrome-related disorders. Ann Neurol. 57(4):513-9, 2005
                                            23. 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
                                            24. Kumandas S et al: Joubert syndrome: review and report of seven new cases. Eur J Neurol. 11(8):505-10, 2004
                                            25. 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

                                                      • Diagnostic Checklist

                                                        TERMINOLOGY

                                                        • Abbreviations

                                                          • Molar tooth malformation (MTM)
                                                          • Joubert syndrome and related disorders (JSRD)
                                                            • Include Joubert, Dekaban-Arima, COACH, Senior-Loken, Varadi-Papp, Joubert-polymicrogyria syndromes, oral-digital-facial syndrome
                                                            • 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. Aljeaid D et al: A novel pathogenic variant in OFD1 results in X-linked Joubert syndrome with orofaciodigital features and pituitary aplasia. Am J Med Genet A. 179(6):1010-4, 2019
                                                                                      2. Hardee I et al: Defective ciliogenesis in INPP5E-related Joubert syndrome. Am J Med Genet A. 173(12):3231-7, 2017
                                                                                      3. Poretti A et al: Joubert syndrome: neuroimaging findings in 110 patients in correlation with cognitive function and genetic cause. J Med Genet. 54(8):521-9, 2017
                                                                                      4. Vilboux T et al: Molecular genetic findings and clinical correlations in 100 patients with Joubert syndrome and related disorders prospectively evaluated at a single center. Genet Med. 19(8):875-82, 2017
                                                                                      5. Quarello E: Enlarged intracranial translucency and molar tooth sign in the first trimester as features of Joubert syndrome and related disorders. Ultrasound Obstet Gynecol. 48(4):532-4, 2016
                                                                                      6. Chapman T et al: Diagnostic imaging of posterior fossa anomalies in the fetus and neonate: part 2, posterior fossa disorders. Clin Imaging. 39(2):167-75, 2015
                                                                                      7. Hsu CC et al: High-resolution diffusion tensor imaging and tractography in Joubert syndrome: Beyond molar tooth sign. Pediatr Neurol. 53(1):47-52, 2015
                                                                                      8. Huppke P et al: Tectonic gene mutations in patients with Joubert syndrome. Eur J Hum Genet. 23(5):616-20, 2015
                                                                                      9. Van Battum EY et al: Axon guidance proteins in neurological disorders. Lancet Neurol. 14(5):532-46, 2015
                                                                                      10. Akizu N et al: Mutations in CSPP1 lead to classical Joubert syndrome. Am J Hum Genet. 94(1):80-6, 2014
                                                                                      11. Poretti A et al: The molar tooth sign is pathognomonic for Joubert syndrome! Pediatr Neurol. 50(6):e15-6, 2014
                                                                                      12. Romani M et al: Joubert syndrome: congenital cerebellar ataxia with the molar tooth. Lancet Neurol. 12(9):894-905, 2013
                                                                                      13. 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
                                                                                      14. Lee JE et al: Cilia in the nervous system: linking cilia function and neurodevelopmental disorders. Curr Opin Neurol. 24(2):98-105, 2011
                                                                                      15. 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
                                                                                      16. 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
                                                                                      17. 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
                                                                                      18. 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
                                                                                      19. 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
                                                                                      20. Widjaja E et al: Diffusion tensor imaging of midline posterior fossa malformations. Pediatr Radiol. 36(6):510-7, 2006
                                                                                      21. 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
                                                                                      22. Valente EM et al: Distinguishing the four genetic causes of Jouberts syndrome-related disorders. Ann Neurol. 57(4):513-9, 2005
                                                                                      23. 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
                                                                                      24. Kumandas S et al: Joubert syndrome: review and report of seven new cases. Eur J Neurol. 11(8):505-10, 2004
                                                                                      25. 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