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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 

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Cerebellar dysplasia and unilateral cataract in Marinesco-Sjögren syndrome.

The classic features of Marinesco-Sjögren syndrome include bilateral cataracts, cerebellar ataxia, and mental deficiency with an autosomal recessive inheritance pattern. Weakness and a variety of other characteristics are present inconsistently. A limited number of neuroimaging studies have indicated that cerebellar hypoplasia is the most common finding. We report a patient with near normal intelligence, unilateral cataract, and the previously unreported magnetic resonance imaging findings of cerebellar dysplasia, arachnoid cyst, and absent septum pellucidum. A review of the literature suggests significant heterogeneity in the Marinesco-Sjögren syndrome.[1]

References

  1. Cerebellar dysplasia and unilateral cataract in Marinesco-Sjögren syndrome. Williams, T.E., Buchhalter, J.R., Sussman, M.D. Pediatric neurology. (1996) [Pubmed]
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