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Journal of Pediatric Neurology 2007; 05(04): 317-321
DOI: 10.1055/s-0035-1557400
Case Report
Georg Thieme Verlag KG Stuttgart – New York

Joubert syndrome: Review and report of five cases from India

Pratibha Singhi
a   Department of Pediatrics, Advanced Pediatric Centre, Post Graduate Institute of Medical Education and Research, Chandigarh, India
,
Vikas Mahajan
a   Department of Pediatrics, Advanced Pediatric Centre, Post Graduate Institute of Medical Education and Research, Chandigarh, India
,
Gurumurthy M. Hiremath
a   Department of Pediatrics, Advanced Pediatric Centre, Post Graduate Institute of Medical Education and Research, Chandigarh, India
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Publikationsverlauf

17. April 2007

05. Juni 2007

Publikationsdatum:
30. Juli 2015 (online)

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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.

Keywords

Joubert syndrome - child - India