In:
Journal of Health and Allied Sciences NU, Georg Thieme Verlag KG, Vol. 04, No. 03 ( 2014-09), p. 121-123
Abstract:
We report on a child with Marinesco-Sjögren Syndrome, a rare autosomal recessive disorder characterised by early onset cataract, psychomotor delay, cerebellar hypoplasia and myopathy. The presentation, neuro-imaging and muscle biopsy features are discussed.
Type of Medium:
Online Resource
ISSN:
2582-4287
,
2582-4953
DOI:
10.1055/s-0040-1703818
Language:
English
Publisher:
Georg Thieme Verlag KG
Publication Date:
2014