title: Clinical features and revised diagnostic criteria in Joubert syndrome.
abstract: The clinical presentation of children with Joubert syndrome can include nonspecific features such as hypotonia, ataxia, and developmental delay. Careful examination of the face shows a characteristic appearance, and a neuro-ophthalmologic examination shows the presence of oculomotor apraxia. In the neonatal period, most children have hyperpnea intermixed with central apnea. Neuroimaging of the head in the axial plane demonstrates the "molar tooth sign"--deep posterior interpeduncular fossa, thick and elongated superior cerebellar peduncles, and hypoplastic or aplastic superior cerebellar vermis. The central nervous system malformation spectrum observed in radiologic and neuropathologic studies accounts for many clinical features of Joubert syndrome. The developmental delay and cognitive impairment cannot be fully explained by the hindbrain malformation and probably result from dysfunction of the cerebral hemispheres. Although related conditions with vermian hypoplasia or aplasia (including Arima; Senior-Loken; and cerebellar vermian hypoplasia, oligophrenia, congenital ataxia, coloboma, and hepatic fibrosis syndromes) can mimic Joubert syndrome, detailed imaging data are lacking in such cases. We propose a revision in diagnostic criteria for Joubert syndrome.
authors.affiliation: Department of Pediatrics, University of Florida, Gainesville, USA. maria@ufbi.ufl.edu
authors.forename: B L
authors.initials: BL
authors.lastname: Maria
authors.forename: E
authors.initials: E
authors.lastname: Boltshauser
authors.forename: S C
authors.initials: SC
authors.lastname: Palmer
authors.forename: T X
authors.initials: TX
authors.lastname: Tran
mesh_terms: D000015:Abnormalities, Multiple; D002524:Cerebellar Ataxia / Q000000981:diagnostic imaging / Q000235:genetics; D002526:Cerebellar Diseases / Q000235:genetics; D002531:Cerebellum / Q000002:abnormalities* / Q000473:pathology; D002675:Child, Preschool; D003072:Cognition Disorders; D002658:Developmental Disabilities; D005260:Female; D006801:Humans; D007223:Infant; D007674:Kidney Diseases; D008279:Magnetic Resonance Imaging; D008297:Male; D009123:Muscle Hypotonia; D015835:Ocular Motility Disorders; D010641:Phenotype; D011859:Radiography; D013577:Syndrome