Joubert syndrome: are kidneys involved?


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).


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@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} }