Joubert Syndrome: A Rare Cause for Developmental Delay
Journal Title: Journal of Medical Science And clinical Research - Year 2017, Vol 5, Issue 2
Abstract
Joubert syndrome (JS) is a very rare autosomal recessive condition. It is a complex mid and hind brain malformations that resembles a molar tooth on axial MR scans. The importance of recognising JS is related to the outcome and its potential complications. We have diagnosed a case of JS in a female infant with delayed motor mile stones, abnormal eye and head movements and a generalised hypotonia.
Authors and Affiliations
Dr Sivatha Gopinath
Keywords
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