A Case of Joubert Syndrome with Chronic Kidney Disease
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...
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2021-01-01
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doaj-05af9d6163214fca97479d1e132af15a2021-04-02T20:01:45ZengWolters Kluwer Medknow PublicationsIndian Journal of Nephrology0971-40651998-36622021-01-01311616310.4103/ijn.IJN_287_19A Case of Joubert Syndrome with Chronic Kidney DiseaseM P ShamsudheenUttara DasGangadhar TaduriSwarnalatha GuditiRaja KarthikRajani ThakurJoubert 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.http://www.indianjnephrol.org/article.asp?issn=0971-4065;year=2021;volume=31;issue=1;spage=61;epage=63;aulast=Shamsudheencerebello-oculo-renal syndromeciliopathyjoubert syndromemolar tooth sign |
collection |
DOAJ |
language |
English |
format |
Article |
sources |
DOAJ |
author |
M P Shamsudheen Uttara Das Gangadhar Taduri Swarnalatha Guditi Raja Karthik Rajani Thakur |
spellingShingle |
M P Shamsudheen Uttara Das Gangadhar Taduri Swarnalatha Guditi Raja Karthik Rajani Thakur A Case of Joubert Syndrome with Chronic Kidney Disease Indian Journal of Nephrology cerebello-oculo-renal syndrome ciliopathy joubert syndrome molar tooth sign |
author_facet |
M P Shamsudheen Uttara Das Gangadhar Taduri Swarnalatha Guditi Raja Karthik Rajani Thakur |
author_sort |
M P Shamsudheen |
title |
A Case of Joubert Syndrome with Chronic Kidney Disease |
title_short |
A Case of Joubert Syndrome with Chronic Kidney Disease |
title_full |
A Case of Joubert Syndrome with Chronic Kidney Disease |
title_fullStr |
A Case of Joubert Syndrome with Chronic Kidney Disease |
title_full_unstemmed |
A Case of Joubert Syndrome with Chronic Kidney Disease |
title_sort |
case of joubert syndrome with chronic kidney disease |
publisher |
Wolters Kluwer Medknow Publications |
series |
Indian Journal of Nephrology |
issn |
0971-4065 1998-3662 |
publishDate |
2021-01-01 |
description |
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. |
topic |
cerebello-oculo-renal syndrome ciliopathy joubert syndrome molar tooth sign |
url |
http://www.indianjnephrol.org/article.asp?issn=0971-4065;year=2021;volume=31;issue=1;spage=61;epage=63;aulast=Shamsudheen |
work_keys_str_mv |
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