Joubert's syndrome and prenatal hydrocephalus

Joubert's syndrome is an autosomal-recessive condition characterized by dys genesis of the cerebellar vermis, hypotonia, developmental delay, a respira tory pattern of alternating tachypnea and apnea, and abnormal eye movements . Radiologic findings include a midline cerebellar cleft in place of the ve rmis and a characteristic shape of the fourth ventricle, Prenatal hydroceph alus has been proposed as a possible etiology for the cerebellar abnormalit ies but has not previously been described in association with this syndrome . The authors report a patient with clinical and radiographic features cons istent with Joubert's syndrome who presented with congenital hydrocephalus, (C) 1999 by Elsevier Science Inc. All rights reserved.