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 journalArticle

26 Citations (Scopus)

Abstract

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
Volume11
Issue number6
DOIs
StatePublished - Dec 1997

Fingerprint

Multicystic Dysplastic Kidney
Kidney Diseases
Fibrosis
Retinal Dystrophies
Nervous System Malformations
Kidney
Muscle Hypotonia
Liver
Dyskinesias
Eye Movements
Cysts
Joubert syndrome 1

Keywords

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

ASJC Scopus subject areas

  • Nephrology
  • Pediatrics, Perinatology, and Child Health

Cite this

Silverstein, D. M., Zacharowicz, L., Edelman, M., Lee, S. C., Greifer, I., & Rapin, I. (1997). Joubert syndrome associated with multicystic kidney disease and hepatic fibrosis. Pediatric Nephrology, 11(6), 746-749. https://doi.org/10.1007/s004670050381

Joubert syndrome associated with multicystic kidney disease and hepatic fibrosis. / Silverstein, Douglas M.; Zacharowicz, Leon; Edelman, Morris; Lee, Sunhee C.; Greifer, Ira; Rapin, Isabelle.

In: Pediatric Nephrology, Vol. 11, No. 6, 12.1997, p. 746-749.

Research output: Contribution to journalArticle

Silverstein, DM, Zacharowicz, L, Edelman, M, Lee, SC, Greifer, I & Rapin, I 1997, 'Joubert syndrome associated with multicystic kidney disease and hepatic fibrosis', Pediatric Nephrology, vol. 11, no. 6, pp. 746-749. https://doi.org/10.1007/s004670050381
Silverstein DM, Zacharowicz L, Edelman M, Lee SC, Greifer I, Rapin I. Joubert syndrome associated with multicystic kidney disease and hepatic fibrosis. Pediatric Nephrology. 1997 Dec;11(6):746-749. https://doi.org/10.1007/s004670050381
Silverstein, Douglas M. ; Zacharowicz, Leon ; Edelman, Morris ; Lee, Sunhee C. ; Greifer, Ira ; Rapin, Isabelle. / Joubert syndrome associated with multicystic kidney disease and hepatic fibrosis. In: Pediatric Nephrology. 1997 ; Vol. 11, No. 6. pp. 746-749.
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