Joubert's syndrome and prenatal hydrocephalus.
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.
Anderson
J S
JS
Northwestern University School of Medicine, and Division of Neuroradiology, Evanston Hospital, Illinois 60201, USA.
Gorey
M T
MT
Pasternak
J F
JF
Trommer
B L
BL
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