title: Cranial sonographic findings in Joubert's syndrome.
abstract: The striking clinical picture of periodic hyperpnea and apnea, hypotonia, ataxia, mental retardation, retinal dystrophy, and oculomotor abnormalities found in association with radiologic evidence of agenesis of the cerebellar vermis characterizes Joubert's syndrome. We describe the cranial sonographic findings in 2 children with Joubert's syndrome from 2 families. Two children in the first family and 6 children in the second family were affected by Joubert's syndrome. To our knowledge, cranial sonographic findings in this syndrome have not been described before.
authors.affiliation: Good Hope Hospital NHS Trust, Sutton Coldfield, West Midlands, United Kingdom.
authors.forename: J A
authors.initials: JA
authors.lastname: al-Talabani
authors.forename: A I
authors.initials: AI
authors.lastname: Shubbar
authors.forename: E
authors.initials: E
authors.lastname: Sobkey
mesh_terms: D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging* / Q000235:genetics; D002531:Cerebellum / Q000002:abnormalities* / Q000000981:diagnostic imaging*; D002675:Child, Preschool; D005500:Follow-Up Studies; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D012886:Skull / Q000000981:diagnostic imaging*; D013577:Syndrome; D014057:Tomography, X-Ray Computed; D014463:Ultrasonography