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Joubert syndrome (MRI)

(A) Coronal and (B) axial section revealing vermian cleft, (C) axial cut through midbrain showing deep interpeduncular fossa and elongated and thickened superior cerebellar peduncles giving rise to “molar tooth” aspect, (D) sagittal section, showing abnormally shaped and rostrally displaced forth ventricle. (Contributed by Dr. Eugen Boltshauser.)

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Associated Disorders

  • Cerebellar hypoplasias
  • Congenital ocular motor apraxia
  • Hepatic fibrosis
  • Jeune asphyxiating thoracic dystropy
  • Medullary cystic kidney disease
  • Mental retardation
  • Nephronophthisis
  • Occipital meningocele
  • Polydactyly
  • Retinal dystrophy