Dm. Silverstein et al., JOUBERT-SYNDROME ASSOCIATED WITH MULTICYSTIC KIDNEY-DISEASE AND HEPATIC-FIBROSIS, Pediatric nephrology, 11(6), 1997, pp. 746-749
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.