title: 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).
authors.affiliation: Department of Pediatrics, University of Zuerich, Switzerland.
authors.forename: E
authors.initials: E
authors.lastname: Boltshauser
authors.forename: I
authors.initials: I
authors.lastname: Forster
authors.forename: T
authors.initials: T
authors.lastname: Deonna
authors.forename: U
authors.initials: U
authors.lastname: Willi
mesh_terms: D000293:Adolescent; D002531:Cerebellum / Q000002:abnormalities*; D002648:Child; D002675:Child, Preschool; D002869:Chromosome Aberrations / Q000235:genetics*; D025063:Chromosome Disorders; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007668:Kidney / Q000002:abnormalities* / Q000000981:diagnostic imaging; D008297:Male; D012160:Retina / Q000503:physiopathology*; D013577:Syndrome; D014463:Ultrasonography