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CASE REPORT
Year : 2019  |  Volume : 8  |  Issue : 1  |  Page : 311-312

Joubert syndrome: A classic case


Department of Radiology, Seth GSMC and KEM Hospital, Mumbai, Maharashtra, India

Correspondence Address:
Amit Dey
Room NO. 107, KEM Main Boy's Hostel, Parel, Mumbai - 400 012, Maharashtra
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/jfmpc.jfmpc_165_18

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Joubert syndrome is a rare autosomal recessive disorder characterized by hyperpnoea and eye movements, hypotonia, ataxia, developmental retardation with neuropathologic abnormalities of cerebellum and brainstem including inherited hypoplasia or aplasia of vermis. Cerebellar vermin anomalies are described in other disorders such as Dandy-Walker and rhombencephalon synapsis. These disorders should be distinguished from Joubert syndrome on the basis of imaging. Comparison with typical imaging and clinical findings may be helpful for appropriate diagnosis.


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