CASE REPORTS
JOURNAL ARTICLE
Add like
Add dislike
Add to saved papers

Joubert syndrome associated with multicystic kidney disease and hepatic fibrosis.

Pediatric Nephrology 1997 December
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.

Full text links

We have located links that may give you full text access.
Can't access the paper?
Try logging in through your university/institutional subscription. For a smoother one-click institutional access experience, please use our mobile app.

For the best experience, use the Read mobile app

Mobile app image

Get seemless 1-tap access through your institution/university

For the best experience, use the Read mobile app

All material on this website is protected by copyright, Copyright © 1994-2024 by WebMD LLC.
This website also contains material copyrighted by 3rd parties.

By using this service, you agree to our terms of use and privacy policy.

Your Privacy Choices Toggle icon

You can now claim free CME credits for this literature searchClaim now

Get seemless 1-tap access through your institution/university

For the best experience, use the Read mobile app