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Journal of Pediatric Neurology 2007; 05(04): 317-321
DOI: 10.1055/s-0035-1557400
DOI: 10.1055/s-0035-1557400
Case Report
Joubert syndrome: Review and report of five cases from India
Subject Editor:
Further Information
Publication History
17 April 2007
05 June 2007
Publication Date:
30 July 2015 (online)
Abstract
Joubert syndrome is an autosomal recessive complex malformation of brain particularly involving the cerebellum and brain stem. Agenesis or dysgenesis of cerebellar vermis and the presence of "molar tooth sign" on axial magnetic resonance imaging are characteristically seen. The main clinical features include hypotonia, developmental delay, abnormal respiratory pattern of alternating episodic tachypnea, hyperpnea and apnea and oculomotor apraxia. We present clinical characteristics of five cases of Joubert syndrome with a review of literature.