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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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