Joubert syndrome associated with multicystic kidney disease and hepatic fibrosis

Douglas M. Silverstein, Leon Zacharowicz, Morris Edelman, Sunhee C. Lee, Ira Greifer, Isabelle Rapin

Research output: Contribution to journalArticlepeer-review

28 Scopus citations


There are several diseases characterized by renal cysts and neurological abnormalities. Joubert syndrome is distinguished by hypoplasia of the cerebellar vermis, hypotonia, retinal dystrophy characterized by abnormal eye movements, and impaired psychomotor development, together with abnormal respiratory pattern. We describe a boy with Joubert syndrome associated with multicystic renal dysplasia and hepatic fibrosis. We speculate that the association of malformations of the renal and nervous systems in this syndrome and others are not random. Concomitant malformations of these systems are likely based upon their common developmental and genetic features.

Original languageEnglish (US)
Pages (from-to)746-749
Number of pages4
JournalPediatric Nephrology
Issue number6
StatePublished - Dec 1997


  • Hepatic fibrosis
  • Joubert syndrome
  • Multicystic renal disease
  • Neurological abnormalities
  • Retinal dystrophy

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Nephrology


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