Title: Joubert Syndrome: A Rare Cause for Developmental Delay
Authors: Dr Sivatha Gopinath, Dr C.Santhosh, Dr C Sanjeevi, Dr S.Rajadirajan, Dr S.Sethurajan, Dr M.Sivakolunthu, Dr M.Adaikappan
DOI: https://dx.doi.org/10.18535/jmscr/v5i2.78
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.
Keywords: Joubert syndrome, Molar tooth sign, Vermian agenesis.
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