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Saudi J Kidney Dis Transpl. 2011 Jul;22(4):788-91.

Joubert syndrome with nephronophthisis in neurofibromatosis type 1.

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Department of Pediatric Nephrology, B.J. Wadia Hospital for Children, Parel, Mumbai, India.


Joubert syndrome (JS) is a rare developmental disorder of the central nervous system, characterised by brainstem and cerebellar malformations, hypotonia, episodic hyperapnea and apnea and mental retardation. It may be associated other systemic abnormalities like ocular (e.g., retinal dysplasia, etc.), oculomotor, musculoskeletal and renal (e.g., cystic dysplasia, nephronophthisis), with renal failure. We describe a case of JS with nephronophthisis in neurofibromatosis Type 1 leading to end-stage renal disease, a association that has never been described earlier in the medical literature to the best of our knowledge.

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