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.
Item Type: | Article |
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Uncontrolled Keywords: | Cerebellar hypoplasia; Growth failure; Hypotonia;Myopathy |
Subjects: | Medicine > KMC Mangalore > Ophthalmology Medicine > KMC Mangalore > Paediatrics |
Depositing User: | KMCMLR User |
Date Deposited: | 18 Jul 2014 07:05 |
Last Modified: | 18 Jul 2014 07:05 |
URI: | http://eprints.manipal.edu/id/eprint/140173 |
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