JOUBERT SYNDROME - ARE KIDNEYS INVOLVED

Renal involvement was checked in our series of 12 children with Jouber t syndrome (JS) who fulfil the cardinal diagnostic features. No patien t had clinical evidence of congenital retinal dystrophy One child had normal kidneys at autopsy and 11 children (aged 1 month to 15 years) h ad no evidence of cystic kidney changes on ultrasonography. We conclud e 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).