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dc.contributor.authorKarakas, Ekrem
dc.contributor.authorCullu, Nesat
dc.contributor.authorKarakas, Omer
dc.contributor.authorCalik, Mustafa
dc.contributor.authorBoyaci, Fatima Nurefsan
dc.contributor.authorYildiz, Sema
dc.contributor.authorAkal, Ali
dc.date.accessioned2020-11-20T16:18:48Z
dc.date.available2020-11-20T16:18:48Z
dc.date.issued2014
dc.identifier.issn0030-9982
dc.identifier.urihttps://hdl.handle.net/20.500.12809/3643
dc.descriptionCALIK, Mustafa/0000-0001-9963-5724; Boyaci, Fatima Nurefsan/0000-0002-8215-4227en_US
dc.descriptionWOS: 000329257900025en_US
dc.descriptionPubMed ID: 24605724en_US
dc.description.abstractJoubert syndrome is a rare disease characterised by clinical and radiological findings. Among the classic clinical findings of JS are hypotonia, ataxia, mental-motor retardation, respiratory and opthalmological findings. The paediatric cases included in the study comprised nine patients. There was familial consanguinty in seven cases. Clinically, all cases had mental-motor retardation and hypotonia. Episodic hyperpnoea attacks were observed in one case. Facial dysmorphism was the most common additional systemic anomaly and four cases had additional opthalmic findings. Brain MRI examination revealed that all cases had molar tooth sign, bat-wing appearance and vermian cleft. The majority of cases also had vermian hypoplasia. Cerebellar folial disorganisation was observed in approxiamtely half of the cases. Three cases had corpus callosum anomaly and atretic occipital encephalocoele. No pathology was determined in other organs. This study aimed to evaluate the clinical and radiological findings of 9 patients diagnosed with Joubert syndrome.en_US
dc.item-language.isoengen_US
dc.publisherPakistan Medical Assocen_US
dc.item-rightsinfo:eu-repo/semantics/closedAccessen_US
dc.subjectJoubert Syndromeen_US
dc.subjectClinical Findingsen_US
dc.subjectRadiological Findingsen_US
dc.subjectMRIen_US
dc.titleJoubert syndrome: the clinical and radiological findingsen_US
dc.item-typeeditorialen_US
dc.contributor.departmenten_US
dc.contributor.departmentTemp[Karakas, Ekrem; Karakas, Omer; Boyaci, Fatima Nurefsan; Yildiz, Sema; Cece, Hasan] Harran Univ, Fac Med, Dept Radiol, Sanliurfa, Turkey -- [Calik, Mustafa] Harran Univ, Fac Med, Dept Pediat Neurol, Sanliurfa, Turkey -- [Akal, Ali] Harran Univ, Fac Med, Dept Ophthalmol, Sanliurfa, Turkey -- [Cullu, Nesat] Mugla Sitki Kocman Univ, Fac Med, Dept Radiol, Mugla, Turkeyen_US
dc.identifier.volume64en_US
dc.identifier.issue1en_US
dc.identifier.startpage91en_US
dc.identifier.endpage94en_US
dc.relation.journalJournal of the Pakistan Medical Associationen_US
dc.relation.publicationcategoryDiğeren_US


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