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Joubert syndrome (CT)

(A) Axial section showing midline vermian cleft and umbrella shaped forth ventricle, (B) higher axial cut revealing “molar tooth” aspect of midbrain and superior cerebellar peduncles. (Contributed by Dr. Eugen Boltshauser.)

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