title: Joubert syndrome: the clinical and radiological findings.
abstract: Joubert 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.
authors.affiliation: Department of Radiology, Faculty of Medicine, Harran University, Sanliurfa, Turkey. karakasekrem@yahoo.com
authors.forename: Ekrem
authors.initials: E
authors.lastname: Karakas
authors.affiliation: Department of Radiology, Faculty of Medicine, Mugla Sitki Koçman University, Mugla, Turkey.
authors.forename: Nesat
authors.initials: N
authors.lastname: Cullu
authors.affiliation: Department of Radiology, Faculty of Medicine, Harran University, Sanliurfa, Turkey.
authors.forename: Omer
authors.initials: O
authors.lastname: Karakas
authors.affiliation: Department of Pediatric Neurology, Faculty of Medicine, Harran University, Sanliurfa, Turkey.
authors.forename: Mustafa
authors.initials: M
authors.lastname: Calik
authors.affiliation: Department of Radiology, Faculty of Medicine, Harran University, Sanliurfa, Turkey.
authors.forename: Fatima Nurefsan
authors.initials: FN
authors.lastname: Boyaci
authors.affiliation: Department of Radiology, Faculty of Medicine, Harran University, Sanliurfa, Turkey.
authors.forename: Sema
authors.initials: S
authors.lastname: Yildiz
authors.affiliation: Department of Radiology, Faculty of Medicine, Harran University, Sanliurfa, Turkey.
authors.forename: Hasan
authors.initials: H
authors.lastname: Cece
authors.affiliation: Department of Ophthalmology, Faculty of Medicine, Harran University, Sanliurfa, Turkey.
authors.forename: Ali
authors.initials: A
authors.lastname: Akal
mesh_terms: D000015:Abnormalities, Multiple; D002526:Cerebellar Diseases / Q000150:complications / Q000175:diagnosis* / Q000000981:diagnostic imaging / Q000473:pathology; D002531:Cerebellum / Q000473:pathology / Q000002:abnormalities; D002648:Child; D002675:Child, Preschool; D005124:Eye Abnormalities / Q000150:complications / Q000175:diagnosis* / Q000000981:diagnostic imaging / Q000473:pathology; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000209:etiology; D052177:Kidney Diseases, Cystic / Q000150:complications / Q000175:diagnosis* / Q000000981:diagnostic imaging / Q000473:pathology; D008279:Magnetic Resonance Imaging; D008297:Male; D009048:Motor Skills; D011859:Radiography; D012160:Retina / Q000002:abnormalities* / Q000000981:diagnostic imaging / Q000473:pathology