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A characteristic malformation of the cerebellum,including dysgenesis of the vermis and enlargement of the fourth ventricle was observed on computed tomography(CT)in 16 children on review of our consecutive material.Seven of these children underwent magnetic resonance imaging(MRI) which showed hypoplasia of the brainstem in addition to cerebellar vermian dysgenesis.One child had,in addition,dysgenesis of the corpus callosum.All these children were developmentally delayed,and many had neonatal breathing abnormalities,congenital retinal dystrophy and supranuclear ocular motor abnormalities.Joubert's syndrome should be suspected in children in whom dysgenesis of the cerebellar vermis and hypoplasia of the brainstem is shown on CT or MRI. |
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brainstem,hypoplasia
CAT scan
CAT scan,abnormal
cerebellar vermis
developmental abnormality of brain
developmental retardation
electroretinograph
eye movement,disorders of
fourth ventricle,enlargement of
genetic neurologic disorders
Joubert syndrome
malformation,CNS,congenital
MRI
MRI,abnormal
nystagmus
retinal degeneration
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