title: Joubert's syndrome and prenatal hydrocephalus.
abstract: Joubert's syndrome is an autosomal-recessive condition characterized by dysgenesis of the cerebellar vermis, hypotonia, developmental delay, a respiratory pattern of alternating tachypnea and apnea, and abnormal eye movements. Radiologic findings include a midline cerebellar cleft in place of the vermis and a characteristic shape of the fourth ventricle. Prenatal hydrocephalus has been proposed as a possible etiology for the cerebellar abnormalities but has not previously been described in association with this syndrome. The authors report a patient with clinical and radiographic features consistent with Joubert's syndrome who presented with congenital hydrocephalus.
authors.affiliation: Northwestern University School of Medicine, and Division of Neuroradiology, Evanston Hospital, Illinois 60201, USA.
authors.forename: J S
authors.initials: JS
authors.lastname: Anderson
authors.forename: M T
authors.initials: MT
authors.lastname: Gorey
authors.forename: J F
authors.initials: JF
authors.lastname: Pasternak
authors.forename: B L
authors.initials: BL
authors.lastname: Trommer
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis*; D001921:Brain / Q000002:abnormalities* / Q000473:pathology; D005260:Female; D006801:Humans; D006849:Hydrocephalus / Q000150:complications / Q000175:diagnosis; D007231:Infant, Newborn; D011296:Prenatal Diagnosis; D013577:Syndrome