Developmental delay in childhood cataract: A caveat Marinesco-Sjogren syndrome

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
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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