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 CASE REPORT
Year : 2021  |  Volume : 31  |  Issue : 1  |  Page : 61-63

A Case of Joubert Syndrome with Chronic Kidney Disease


1 Department of Nephrology, Nizam's Institute of Medical Sciences, Punjagutta, Hyderabad, Telangana, India
2 Department of Radiodiagnosis, Nizam's Institute of Medical Sciences, Punjagutta, Hyderabad, Telangana, India

Correspondence Address:
Dr. Uttara Das
Additional Professor in Nephrology, Nizam's Institute of Medical Sciences, Punjagutta, Hyderabad - 500 082, Telangana
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/ijn.IJN_287_19

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Joubert syndrome is a genetically heterogeneous disorder that belongs to the group of cerebello-oculo-renal syndromes. It is characterised by neurodevelopmental abnormalities and complex midbrain-hindbrain malformation, visible on brain imaging as a molar tooth sign. It is classified as a ciliopathy and has variable renal involvement. Herein, we report a case of a 9-year-old boy with developmental delay, presented as chronic kidney disease and evaluation showed features of Joubert syndrome. Recognition of specific clinical and radiological findings will help in early diagnosis and appropriate care.






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Indian Journal of Nephrology
Published by Wolters Kluwer - Medknow
Online since 20th Sept '07