JOUBERT SYNDROME IN SIBLINGS - A CASE REPORT
Journal: University Journal of Medicine and Medical Specialities (Vol.4, No. 4)Publication Date: 2018-10-03
Authors : RAMYA;
Page : 43-44
Keywords : joubert; vermis aplasia.;
Abstract
Joubert syndrome is a rare autosomal recessive disorder characterized by ataxia, developmental delay, oculomotor and respiratory abnormalities which is secondary to cerebellar vermian and midbrain dysgenesis. Here we had two siblings presented with developmental delay and nystagmus and their CT Brain was suggestive of joubert syndrome.
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Last modified: 2018-10-09 14:27:13