Joubert syndrome: are kidneys involved?

Abstract

Renal involvement was checked in our series of 12 children with Joubert syndrome (JS) who fulfil the cardinal diagnostic features. No patient had clinical evidence of congenital retinal dystrophy. One child had normal kidneys at autopsy and 11 children (aged 1 month to 15 years) had no evidence of cystic kidney changes on ultrasonography. We conclude that kidneys are not involved in JS without retinal dystrophy. There may be a subgroup (or different syndrome) of patients with both renal cysts plus retinal dystrophy, as suggested by Saraiva and Baraitser (11).

Statistics

0200400600'98'00'02'04'06'08'10'12'14'16
Citations per Year

549 Citations

Semantic Scholar estimates that this publication has 549 citations based on the available data.

See our FAQ for additional information.

Cite this paper

@article{Boltshauser1995JoubertSA, title={Joubert syndrome: are kidneys involved?}, author={Eugen Boltshauser and Ishilde Forster and Th. Deonna and Ulrich Victor Willi}, journal={Neuropediatrics}, year={1995}, volume={26 6}, pages={320-1} }