Congenital continuity (lack of division) of cerebellar hemispheres
Complete or partial absence of vermis
Varying degrees of midline fusion of cerebellar hemispheres, dentate nuclei
Hemispheres usually continuous across midline
May be partial, affect any part(s) of hemispheres
Best classified as abnormal induction of dorsal cerebellar midline
IMAGING
General Features
Radiographic Findings
CT Findings
MR Findings
Ultrasonographic Findings
Imaging Recommendations
DIFFERENTIAL DIAGNOSIS
PATHOLOGY
General Features
Staging, Grading, & Classification
Gross Pathologic & Surgical Features
CLINICAL ISSUES
Presentation
Demographics
Natural History & Prognosis
Treatment
DIAGNOSTIC CHECKLIST
Consider
Image Interpretation Pearls
Reporting Tips
Selected References
Aldinger KA et al: Rhombencephalosynapsis: fused cerebellum, confused geneticists. Am J Med Genet C Semin Med Genet. 178(4):432-9, 2018
Kline-Fath BM et al: Prenatal aqueduct stenosis: association with rhombencephalosynapsis and neonatal outcome. Prenat Diagn. 38(13):1028-34, 2018
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
Passi GR et al: Rhombencephalosynapsis. Pediatr Neurol. 52(6):651-2, 2015
Poretti A et al: Fetal diagnosis of rhombencephalosynapsis. Neuropediatrics. 46(6):357-8, 2015
Poretti A et al: Cerebellar hypoplasia: differential diagnosis and diagnostic approach. Am J Med Genet C Semin Med Genet. 166(2):211-26, 2014
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
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
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
Tully HM et al: Beyond Gómez-López-Hernández syndrome: recurring phenotypic themes in rhombencephalosynapsis. Am J Med Genet A. 158A(10):2393-406, 2012
Alkan O et al: Malformations of the midbrain and hindbrain: a retrospective study and review of the literature. Cerebellum. 8(3):355-65, 2009
Barkovich AJ et al: A developmental and genetic classification for midbrain-hindbrain malformations. Brain. 132(Pt 12):3199-230, 2009
Dill P et al: Fetal magnetic resonance imaging in midline malformations of the central nervous system and review of the literature. J Neuroradiol. 36(3):138-46, 2009
Jellinger KA: Rhombencephalosynapsis with and without associated malformations. Acta Neuropathol. 117(2):219, 2009
Michael GA et al: Reactivity to visual signals and the cerebellar vermis: evidence from a rare case with rhombencephalosynapsis. Behav Neurosci. 123(1):86-96, 2009
Pasquier L et al: Rhombencephalosynapsis and related anomalies: a neuropathological study of 40 fetal cases. Acta Neuropathol. 117(2):185-200, 2009
Poretti A et al: Cognitive outcome in children with rhombencephalosynapsis. Eur J Paediatr Neurol. 13(1):28-33, 2009
Elliott R et al: Rhombencephalosynapsis associated with autosomal dominant polycystic kidney disease Type 1. J Neurosurg Pediatr. 2(6):435-7, 2008
Demaerel P et al: Partial rhombencephalosynapsis. AJNR Am J Neuroradiol. 25(1):29-31, 2004
Patel S et al: Analysis and classification of cerebellar malformations. AJNR Am J Neuroradiol. 23(7):1074-87, 2002
Toelle SP et al: Rhombencephalosynapsis: clinical findings and neuroimaging in 9 children. Neuropediatrics. 33(4):209-14, 2002
Related Anatomy
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References
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Tables
KEY FACTS
Terminology
Imaging
Top Differential Diagnoses
Pathology
Diagnostic Checklist
TERMINOLOGY
Abbreviations
Rhombencephalosynapsis (RES)
Definitions
Congenital continuity (lack of division) of cerebellar hemispheres
Complete or partial absence of vermis
Varying degrees of midline fusion of cerebellar hemispheres, dentate nuclei
Hemispheres usually continuous across midline
May be partial, affect any part(s) of hemispheres
Best classified as abnormal induction of dorsal cerebellar midline
IMAGING
General Features
Radiographic Findings
CT Findings
MR Findings
Ultrasonographic Findings
Imaging Recommendations
DIFFERENTIAL DIAGNOSIS
PATHOLOGY
General Features
Staging, Grading, & Classification
Gross Pathologic & Surgical Features
CLINICAL ISSUES
Presentation
Demographics
Natural History & Prognosis
Treatment
DIAGNOSTIC CHECKLIST
Consider
Image Interpretation Pearls
Reporting Tips
Selected References
Aldinger KA et al: Rhombencephalosynapsis: fused cerebellum, confused geneticists. Am J Med Genet C Semin Med Genet. 178(4):432-9, 2018
Kline-Fath BM et al: Prenatal aqueduct stenosis: association with rhombencephalosynapsis and neonatal outcome. Prenat Diagn. 38(13):1028-34, 2018
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
Passi GR et al: Rhombencephalosynapsis. Pediatr Neurol. 52(6):651-2, 2015
Poretti A et al: Fetal diagnosis of rhombencephalosynapsis. Neuropediatrics. 46(6):357-8, 2015
Poretti A et al: Cerebellar hypoplasia: differential diagnosis and diagnostic approach. Am J Med Genet C Semin Med Genet. 166(2):211-26, 2014
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
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
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
Tully HM et al: Beyond Gómez-López-Hernández syndrome: recurring phenotypic themes in rhombencephalosynapsis. Am J Med Genet A. 158A(10):2393-406, 2012
Alkan O et al: Malformations of the midbrain and hindbrain: a retrospective study and review of the literature. Cerebellum. 8(3):355-65, 2009
Barkovich AJ et al: A developmental and genetic classification for midbrain-hindbrain malformations. Brain. 132(Pt 12):3199-230, 2009
Dill P et al: Fetal magnetic resonance imaging in midline malformations of the central nervous system and review of the literature. J Neuroradiol. 36(3):138-46, 2009
Jellinger KA: Rhombencephalosynapsis with and without associated malformations. Acta Neuropathol. 117(2):219, 2009
Michael GA et al: Reactivity to visual signals and the cerebellar vermis: evidence from a rare case with rhombencephalosynapsis. Behav Neurosci. 123(1):86-96, 2009
Pasquier L et al: Rhombencephalosynapsis and related anomalies: a neuropathological study of 40 fetal cases. Acta Neuropathol. 117(2):185-200, 2009
Poretti A et al: Cognitive outcome in children with rhombencephalosynapsis. Eur J Paediatr Neurol. 13(1):28-33, 2009
Elliott R et al: Rhombencephalosynapsis associated with autosomal dominant polycystic kidney disease Type 1. J Neurosurg Pediatr. 2(6):435-7, 2008
Demaerel P et al: Partial rhombencephalosynapsis. AJNR Am J Neuroradiol. 25(1):29-31, 2004
Patel S et al: Analysis and classification of cerebellar malformations. AJNR Am J Neuroradiol. 23(7):1074-87, 2002
Toelle SP et al: Rhombencephalosynapsis: clinical findings and neuroimaging in 9 children. Neuropediatrics. 33(4):209-14, 2002
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