Joubert Syndrome.

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dc.contributor.authorSamanta, Tarun Kumar
dc.contributor.authorAkhtar, Shakil
dc.date.accessioned2015-04-14T10:51:46Z
dc.date.available2015-04-14T10:51:46Z
dc.date.issued2012-12
dc.description.abstractJoubert syndrome is a very rare condition seen in our country. Herein, we report a case of Joubert syndrome in a one year four months old, male baby from a consanguineous marriage presenting with delayed developmental milestone, hypotonia, abnormal respiratory pattern and nystagmus . Cranial MRI shows ‘‘Molar Tooth Sign’’.en_US
dc.identifier.citationSamanta Tarun Kumar, Akhtar Shakil. Joubert Syndrome. Indian Medical Gazette. 2012 Dec ; 145 (12): 494-496.en_US
dc.identifier.urihttps://imsear.searo.who.int/handle/123456789/157472
dc.language.isoenen_US
dc.source.urihttps://medind.nic.in/ice/t12/i12/icet12i12p494.pdfen_US
dc.subjectjoubert syndromeen_US
dc.subjectvermisen_US
dc.subject.meshAbnormalities, Multiple
dc.subject.meshCerebellum --abnormalities
dc.subject.meshCerebellar Vermis --diagnosis
dc.subject.meshConsanguinity
dc.subject.meshEye Abnormalities --diagnosis
dc.subject.meshHumans
dc.subject.meshIndia
dc.subject.meshInfant
dc.subject.meshMale
dc.subject.meshMuscle Hypotonia --diagnosis
dc.subject.meshNystagmus, Congenital --diagnosis
dc.subject.meshOcular Motility Disorders --diagnosis
dc.subject.meshRespiration Disorders --diagnosis
dc.subject.meshSyndrome
dc.titleJoubert Syndrome.en_US
dc.typeArticleen_US
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