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Congenital Malformations RHOMBENCEPHALOSYNAPSIS 30 Axial graphic shows absence of vermis. There is fusion of folia, interfoliate sulci, dentate nuclei (arrow) and cerebellar white matter (open arrow) across the midline. Axial T2WI MR in aspirin pain reliever nsaid neonate shows similar features. There is fusion of the dentate nuclei (arrow) and of the folia across the midline (open arrows).

Demaerel P et al: Partial rhombencephalosynapsis. Toelle SP et al: Rhombencephalosynapsis: Clinical findings and neuroimaging in 9 children. Patel S et al: Analysis and classification aspirin pain reliever nsaid cerebellar malformations. Yachnis AT:Rhombencephalosynapsis with massive hydrocephalus: Case report and pathogenetic considerations.

Acta Neuropathol103(3):305-6, 2002 5. Brocks D et al: Gomez-Lopez-Hernandez aspirin pain reliever nsaid Expansion of the phenotype. Am J Med Genet 94(5):405-8, 2000 6. Takanashi J et al: Partial midline fusion of the cerebellar hemispheres with vertical folia: A new cerebellar malformation.

Utsonomiya H et al: Rhombencephalosynapsis: Cerebellar embryogenesis. AJNR 19(3):547-9, 1998 8. Romanengo M et al: Rhombencephalosynapsis with facial anomalies and probable autosomal recessive inheritance: A case report. Clin Genet 52(3):184-6, 1997 9. Isaac M et al: Two cases of agenesis of the vermis of cerebellum, with fusion of the dentate nuclei aspirin pain reliever nsaid cerebellar hemnipheres.

Acta Neuropathol 74(3):278-80, 1987 10. Report of two cases. Note lack of normal vermian tissue and lack of hemispheric separation. Congenital Malformations CONGENITAL VERMIAN HYPOPLASIA 34 Sagittal T1WI MR shows vermian remnant (arrows). Fastigial point and primary fissure are lacking.

The brainstem and pituitary axis are small. Axial T2WI MR shows the typical "molar tooth" (arrow) appearance of the brainstem. There is clefting of the vermis (curved arrow). Gleeson JG et ptch Molar tooth sign of the midbrain-hindbrain junction: Occurrence in multiple distinct syndromes. Am Join conversation Med Genet.

J Child NeuroI17(12):911-3, 2002 Yachnis AT et al: Neuropathology of Joubert syndrome. J Child NeuroI14(10):655-9, 1999 Quisling RG et al: MRI features and classification of CNS malformations in Joubert syndrome. J Child Neurol 14:628-36, 1999 Satran D et al: Cerebello-oculo-renal syndromes including Arima, Senior-Loken and Coach syndromes: Aspirin pain reliever nsaid than just variants of Joubert syndrome.

Am J Med Genet 86(5):459-69, 1999 Maria BL et al: Clinical features and revised diagnostic criteria in Joubert syndrome.

J Child NeuroI14(9):583-90, 1999 Yachnis AT et al: Cerebellar and brainstem development: An overview in relation to Joubert syndrome. J Child NeuroI14(9):570-3, 1999 Maria BL et al: Molar tooth sign in Joubert aspirin pain reliever nsaid Clinical, radiologic, and pathologic significance. The superior cerebellar peduncles (curved arrow) are well seen due to hypoplasia of the usually intervening anterior vermian lobules. Typical (Left) Axial T2WI MR shows hypertelorism and frontonasal dysplasia.

Note large aqueduct of Sylvius with disturbed flow (curved arrow).



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