Joubert Syndrome - A Case Report

Journal Title: Journal of Krishna Institute of Medical Sciences University - Year 2013, Vol 2, Issue 2

Abstract

Joubert syndrome is a very rare malformation.It is estimated to affect between 1 in 80,000and 1 in 100,000 newborns. Joubert syndromeis an autosomal recessive disorder marked byagenesis of cerebellar vermis, ataxia, hypotonia,oculomotor apraxia, neonatal breathingproblems and mental retardation.

Authors and Affiliations

Bandichhode S. T , Anitha M. S , Anand Pandav

Keywords

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  • EP ID EP146351
  • DOI -
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How To Cite

Bandichhode S. T, Anitha M. S, Anand Pandav (2013).  Joubert Syndrome - A Case Report. Journal of Krishna Institute of Medical Sciences University, 2(2), 138-140. https://europub.co.uk/articles/-A-146351