Shenoy , Rathika D. and *, Deepthi R.V. and Kamath, Nutan and Kamath, Sumana J (2014) Developmental delay in childhood cataract: A caveat Marinesco-Sjogren syndrome. Nitte University Journal of Health Science, 4 (3). pp. 121-123. ISSN 2249-7110

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Abstract

We report on a child with Marinesco-Sjögren Syndrome, a rare autosomal recessive disorder characterised by early onset cataract, psychomotor delay, cerebellar hypoplasia andmyopathy. The presentation, neuro-imaging and muscle biopsy features are discussed.

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