JOUBERT-SYNDROME ASSOCIATED WITH MULTICYSTIC KIDNEY-DISEASE AND HEPATIC-FIBROSIS

There are several diseases characterized by renal cysts and neurologic al abnormalities. Joubert syndrome is distinguished by hypoplasia of t he cerebellar vermis, hypotonia, retinal dystrophy characterized by ab normal eye movements, and impaired psychomotor development, together w ith abnormal respiratory pattern. We describe a boy with Joubert syndr ome associated with multicystic renal dysplasia and hepatic fibrosis. We speculate that the association of malformations of the renal and ne rvous systems in this syndrome and others are not random. Concomitant malformations of these systems are likely based upon their common deve lopmental and genetic features.