title: Joubert syndrome: early diagnosis by recognition of the behavioral phenotype and confirmation by cranial sonography.
abstract: Our experience with two children with Joubert syndrome demonstrates how the diagnosis, if suspected by recognition of the behavioral phenotype, can rapidly be made by employing cranial sonography. This technique also may afford prenatal diagnosis of the syndrome in future siblings of confirmed cases. We have produced an educational videotape demonstrating the dynamic behavior of these patients. It is our hope that increased familiarity with the behavior phenotype through this report and through distribution of the videotape will lead to early and accurate diagnosis of further cases of this syndrome.
authors.affiliation: Department of Pediatrics, Medical College of Georgia, Augusta 30912-3770.
authors.forename: B O
authors.initials: BO
authors.lastname: Edwards
authors.forename: A Q
authors.initials: AQ
authors.lastname: Fischer
authors.forename: D B
authors.initials: DB
authors.lastname: Flannery
mesh_terms: D000818:Animals; D001284:Atrophy; D001927:Brain Diseases / Q000175:diagnosis* / Q000473:pathology; D002531:Cerebellum / Q000473:pathology*; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000150:complications*; D051379:Mice; D012120:Respiration Disorders / Q000150:complications*; D013577:Syndrome; D014463:Ultrasonography