Joubert syndrome- A case presentation [Joubert sendromu- Olgu sunumu]

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dc.contributor.authorCiliz D.
dc.contributor.authorOzturk S.
dc.contributor.authorSakman B.
dc.date.accessioned2020-03-26T18:05:44Z
dc.date.available2020-03-26T18:05:44Z
dc.date.issued2010
dc.departmentSelçuk Üniversitesien_US
dc.description.abstractJoubert syndrome is an autosomal recessive disorder characterized by partial or complete agenesis of the cerebellar vermis. Clinical features include attacks of tachypnea alternating with respiratory pauses, abnormal ocular movements, severe psychomotor retardation and ataxia. A 12 year- old male patient was diagnosed as Joubert syndrome by clinical and radiological findings. After 10 years follow up, his ataxic symptoms improved to be enough to supply self care. Our case was interesting because of his good prognosis which is rare for this condition.en_US
dc.identifier.endpage218en_US
dc.identifier.issn1300-1817en_US
dc.identifier.issue2en_US
dc.identifier.scopusqualityN/Aen_US
dc.identifier.startpage214en_US
dc.identifier.urihttps://hdl.handle.net/20.500.12395/25520
dc.identifier.volume27en_US
dc.indekslendigikaynakScopusen_US
dc.language.isotren_US
dc.relation.ispartofJournal of Neurological Sciencesen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.selcuk20240510_oaigen_US
dc.subjectAtaxiaen_US
dc.subjectCerebellaren_US
dc.subjectJoubert syndromeen_US
dc.subjectMRIen_US
dc.subjectPrognosisen_US
dc.titleJoubert syndrome- A case presentation [Joubert sendromu- Olgu sunumu]en_US
dc.typeArticleen_US

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