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Neuropediatrics 1995; 26(6): 320-321
DOI: 10.1055/s-2007-979782
Short communications

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Joubert Syndrome: Are Kidneys Involved?

E. Boltshauser1 , I. Forster1 , T. Deonna2 , U. Willi1
  • 1Department of Pediatrics, University of Zuerich
  • 2Department of Pediatrics, University of Lausanne, Switzerland
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Publikationsdatum:
19. April 2007 (online)

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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).

Key words

Joubert syndrome - Cerebellar malformation - Kidney - Renal ultrasound - Nephronophthisis