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Rhombencephalosynapsis
Anne Kennedy, MD
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KEY FACTS

  • Terminology

    • Imaging

      • Top Differential Diagnoses

        • Clinical Issues

          • Diagnostic Checklist

            TERMINOLOGY

            • Abbreviations

              • Rhombencephalosynapsis (RES)
            • Definitions

              • Midline fusion of cerebellar hemispheres with partial or complete loss of vermis

            IMAGING

            • Ultrasonographic Findings

              • MR Findings

                • Imaging Recommendations

                  DIFFERENTIAL DIAGNOSIS

                    PATHOLOGY

                    • General Features

                      • Gross Pathologic & Surgical Features

                        CLINICAL ISSUES

                        • Presentation

                          • Demographics

                            • Natural History & Prognosis

                              • Treatment

                                DIAGNOSTIC CHECKLIST

                                • Consider

                                  • Image Interpretation Pearls

                                    Selected References

                                    1. Haratz KK et al: Fourth ventricle index: sonographic marker for severe fetal vermian dysgenesis/agenesis. Ultrasound Obstet Gynecol. 53(3):390-5, 2019
                                    2. Pertl B et al: The fetal posterior fossa on prenatal ultrasound imaging: normal longitudinal development and posterior fossa anomalies. Ultraschall Med. 40(6):692-721, 2019
                                    3. Aldinger KA et al: Rhombencephalosynapsis: fused cerebellum, confused geneticists. Am J Med Genet C Semin Med Genet. 178(4):432-9, 2018
                                    4. Kline-Fath BM et al: Prenatal aqueduct stenosis: association with rhombencephalosynapsis and neonatal outcome. Prenat Diagn. 38(13):1028-34, 2018
                                    5. Kalane U et al: Rhombencephalosynapsis: a rare cerebellar malformation associated with aqueductal stenosis and obstructive hydrocephalus. Neurol India. 64(6):1381-3, 2016
                                    6. Kobayashi Y et al: Gómez-López-Hernández syndrome in a Japanese patient: a case report. Brain Dev. 37(3):356-8, 2015
                                    7. Passi GR et al: Rhombencephalosynapsis. Pediatr Neurol. 52(6):651-2, 2015
                                    8. Poretti A et al: Fetal diagnosis of rhombencephalosynapsis. Neuropediatrics. 46(6):357-8, 2015
                                    9. Whitehead MT et al: Rhombencephalosynapsis as a cause of aqueductal stenosis: an under-recognized association in hydrocephalic children. Pediatr Radiol. 44(7):849-56, 2014
                                    10. Cagneaux M et al: Severe second-trimester obstructive ventriculomegaly related to disorders of diencephalic, mesencephalic and rhombencephalic differentiation. Ultrasound Obstet Gynecol. 42(5):596-602, 2013
                                    11. Tully HM et al: Persistent figure-eight and side-to-side head shaking is a marker for rhombencephalosynapsis. Mov Disord. 28(14):2019-23, 2013
                                    12. Weaver J et al: Rhombencephalosynapsis: embryopathology and management strategies of associated neurosurgical conditions with a review of the literature. J Neurosurg Pediatr. 11(3):320-6, 2013
                                    13. Barth PG: Rhombencephalosynapsis: new findings in a larger study. Brain. 135(Pt 5):1346-7, 2012
                                    14. Bekiesińska-Figatowska M et al: Rhombencephalosynapsis - isolated anomaly or complex malformation? Pol J Radiol. 77(3):35-8, 2012
                                    15. Ishak GE et al: Rhombencephalosynapsis: a hindbrain malformation associated with incomplete separation of midbrain and forebrain, hydrocephalus and a broad spectrum of severity. Brain. 135(Pt 5):1370-86, 2012
                                    16. Koprivsek KM et al: Partial rhombencephalosynapsis: prenatal MR imaging diagnosis and postnatal follow up. Acta Neurol Belg. 111(2):157-9, 2011
                                    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

                                            • Diagnostic Checklist

                                              TERMINOLOGY

                                              • Abbreviations

                                                • Rhombencephalosynapsis (RES)
                                              • Definitions

                                                • Midline fusion of cerebellar hemispheres with partial or complete loss of vermis

                                              IMAGING

                                              • Ultrasonographic Findings

                                                • MR Findings

                                                  • Imaging Recommendations

                                                    DIFFERENTIAL DIAGNOSIS

                                                      PATHOLOGY

                                                      • General Features

                                                        • Gross Pathologic & Surgical Features

                                                          CLINICAL ISSUES

                                                          • Presentation

                                                            • Demographics

                                                              • Natural History & Prognosis

                                                                • Treatment

                                                                  DIAGNOSTIC CHECKLIST

                                                                  • Consider

                                                                    • Image Interpretation Pearls

                                                                      Selected References

                                                                      1. Haratz KK et al: Fourth ventricle index: sonographic marker for severe fetal vermian dysgenesis/agenesis. Ultrasound Obstet Gynecol. 53(3):390-5, 2019
                                                                      2. Pertl B et al: The fetal posterior fossa on prenatal ultrasound imaging: normal longitudinal development and posterior fossa anomalies. Ultraschall Med. 40(6):692-721, 2019
                                                                      3. Aldinger KA et al: Rhombencephalosynapsis: fused cerebellum, confused geneticists. Am J Med Genet C Semin Med Genet. 178(4):432-9, 2018
                                                                      4. Kline-Fath BM et al: Prenatal aqueduct stenosis: association with rhombencephalosynapsis and neonatal outcome. Prenat Diagn. 38(13):1028-34, 2018
                                                                      5. Kalane U et al: Rhombencephalosynapsis: a rare cerebellar malformation associated with aqueductal stenosis and obstructive hydrocephalus. Neurol India. 64(6):1381-3, 2016
                                                                      6. Kobayashi Y et al: Gómez-López-Hernández syndrome in a Japanese patient: a case report. Brain Dev. 37(3):356-8, 2015
                                                                      7. Passi GR et al: Rhombencephalosynapsis. Pediatr Neurol. 52(6):651-2, 2015
                                                                      8. Poretti A et al: Fetal diagnosis of rhombencephalosynapsis. Neuropediatrics. 46(6):357-8, 2015
                                                                      9. Whitehead MT et al: Rhombencephalosynapsis as a cause of aqueductal stenosis: an under-recognized association in hydrocephalic children. Pediatr Radiol. 44(7):849-56, 2014
                                                                      10. Cagneaux M et al: Severe second-trimester obstructive ventriculomegaly related to disorders of diencephalic, mesencephalic and rhombencephalic differentiation. Ultrasound Obstet Gynecol. 42(5):596-602, 2013
                                                                      11. Tully HM et al: Persistent figure-eight and side-to-side head shaking is a marker for rhombencephalosynapsis. Mov Disord. 28(14):2019-23, 2013
                                                                      12. Weaver J et al: Rhombencephalosynapsis: embryopathology and management strategies of associated neurosurgical conditions with a review of the literature. J Neurosurg Pediatr. 11(3):320-6, 2013
                                                                      13. Barth PG: Rhombencephalosynapsis: new findings in a larger study. Brain. 135(Pt 5):1346-7, 2012
                                                                      14. Bekiesińska-Figatowska M et al: Rhombencephalosynapsis - isolated anomaly or complex malformation? Pol J Radiol. 77(3):35-8, 2012
                                                                      15. Ishak GE et al: Rhombencephalosynapsis: a hindbrain malformation associated with incomplete separation of midbrain and forebrain, hydrocephalus and a broad spectrum of severity. Brain. 135(Pt 5):1370-86, 2012
                                                                      16. Koprivsek KM et al: Partial rhombencephalosynapsis: prenatal MR imaging diagnosis and postnatal follow up. Acta Neurol Belg. 111(2):157-9, 2011