Journal of Clinical and Diagnostic Research, ISSN - 0973 - 709X

Users Online : 91397

AbstractCase ReportDiscussionConclusionReferencesDOI and Others
Article in PDF How to Cite Citation Manager Readers' Comments (0) Audio Visual Article Statistics Link to PUBMED Print this Article Send to a Friend
Advertisers Access Statistics Resources

Dr Mohan Z Mani

"Thank you very much for having published my article in record time.I would like to compliment you and your entire staff for your promptness, courtesy, and willingness to be customer friendly, which is quite unusual.I was given your reference by a colleague in pathology,and was able to directly phone your editorial office for clarifications.I would particularly like to thank the publication managers and the Assistant Editor who were following up my article. I would also like to thank you for adjusting the money I paid initially into payment for my modified article,and refunding the balance.
I wish all success to your journal and look forward to sending you any suitable similar article in future"



Dr Mohan Z Mani,
Professor & Head,
Department of Dermatolgy,
Believers Church Medical College,
Thiruvalla, Kerala
On Sep 2018




Prof. Somashekhar Nimbalkar

"Over the last few years, we have published our research regularly in Journal of Clinical and Diagnostic Research. Having published in more than 20 high impact journals over the last five years including several high impact ones and reviewing articles for even more journals across my fields of interest, we value our published work in JCDR for their high standards in publishing scientific articles. The ease of submission, the rapid reviews in under a month, the high quality of their reviewers and keen attention to the final process of proofs and publication, ensure that there are no mistakes in the final article. We have been asked clarifications on several occasions and have been happy to provide them and it exemplifies the commitment to quality of the team at JCDR."



Prof. Somashekhar Nimbalkar
Head, Department of Pediatrics, Pramukhswami Medical College, Karamsad
Chairman, Research Group, Charutar Arogya Mandal, Karamsad
National Joint Coordinator - Advanced IAP NNF NRP Program
Ex-Member, Governing Body, National Neonatology Forum, New Delhi
Ex-President - National Neonatology Forum Gujarat State Chapter
Department of Pediatrics, Pramukhswami Medical College, Karamsad, Anand, Gujarat.
On Sep 2018




Dr. Kalyani R

"Journal of Clinical and Diagnostic Research is at present a well-known Indian originated scientific journal which started with a humble beginning. I have been associated with this journal since many years. I appreciate the Editor, Dr. Hemant Jain, for his constant effort in bringing up this journal to the present status right from the scratch. The journal is multidisciplinary. It encourages in publishing the scientific articles from postgraduates and also the beginners who start their career. At the same time the journal also caters for the high quality articles from specialty and super-specialty researchers. Hence it provides a platform for the scientist and researchers to publish. The other aspect of it is, the readers get the information regarding the most recent developments in science which can be used for teaching, research, treating patients and to some extent take preventive measures against certain diseases. The journal is contributing immensely to the society at national and international level."



Dr Kalyani R
Professor and Head
Department of Pathology
Sri Devaraj Urs Medical College
Sri Devaraj Urs Academy of Higher Education and Research , Kolar, Karnataka
On Sep 2018




Dr. Saumya Navit

"As a peer-reviewed journal, the Journal of Clinical and Diagnostic Research provides an opportunity to researchers, scientists and budding professionals to explore the developments in the field of medicine and dentistry and their varied specialities, thus extending our view on biological diversities of living species in relation to medicine.
‘Knowledge is treasure of a wise man.’ The free access of this journal provides an immense scope of learning for the both the old and the young in field of medicine and dentistry as well. The multidisciplinary nature of the journal makes it a better platform to absorb all that is being researched and developed. The publication process is systematic and professional. Online submission, publication and peer reviewing makes it a user-friendly journal.
As an experienced dentist and an academician, I proudly recommend this journal to the dental fraternity as a good quality open access platform for rapid communication of their cutting-edge research progress and discovery.
I wish JCDR a great success and I hope that journal will soar higher with the passing time."



Dr Saumya Navit
Professor and Head
Department of Pediatric Dentistry
Saraswati Dental College
Lucknow
On Sep 2018




Dr. Arunava Biswas

"My sincere attachment with JCDR as an author as well as reviewer is a learning experience . Their systematic approach in publication of article in various categories is really praiseworthy.
Their prompt and timely response to review's query and the manner in which they have set the reviewing process helps in extracting the best possible scientific writings for publication.
It's a honour and pride to be a part of the JCDR team. My very best wishes to JCDR and hope it will sparkle up above the sky as a high indexed journal in near future."



Dr. Arunava Biswas
MD, DM (Clinical Pharmacology)
Assistant Professor
Department of Pharmacology
Calcutta National Medical College & Hospital , Kolkata




Dr. C.S. Ramesh Babu
" Journal of Clinical and Diagnostic Research (JCDR) is a multi-specialty medical and dental journal publishing high quality research articles in almost all branches of medicine. The quality of printing of figures and tables is excellent and comparable to any International journal. An added advantage is nominal publication charges and monthly issue of the journal and more chances of an article being accepted for publication. Moreover being a multi-specialty journal an article concerning a particular specialty has a wider reach of readers of other related specialties also. As an author and reviewer for several years I find this Journal most suitable and highly recommend this Journal."
Best regards,
C.S. Ramesh Babu,
Associate Professor of Anatomy,
Muzaffarnagar Medical College,
Muzaffarnagar.
On Aug 2018




Dr. Arundhathi. S
"Journal of Clinical and Diagnostic Research (JCDR) is a reputed peer reviewed journal and is constantly involved in publishing high quality research articles related to medicine. Its been a great pleasure to be associated with this esteemed journal as a reviewer and as an author for a couple of years. The editorial board consists of many dedicated and reputed experts as its members and they are doing an appreciable work in guiding budding researchers. JCDR is doing a commendable job in scientific research by promoting excellent quality research & review articles and case reports & series. The reviewers provide appropriate suggestions that improve the quality of articles. I strongly recommend my fraternity to encourage JCDR by contributing their valuable research work in this widely accepted, user friendly journal. I hope my collaboration with JCDR will continue for a long time".



Dr. Arundhathi. S
MBBS, MD (Pathology),
Sanjay Gandhi institute of trauma and orthopedics,
Bengaluru.
On Aug 2018




Dr. Mamta Gupta,
"It gives me great pleasure to be associated with JCDR, since last 2-3 years. Since then I have authored, co-authored and reviewed about 25 articles in JCDR. I thank JCDR for giving me an opportunity to improve my own skills as an author and a reviewer.
It 's a multispecialty journal, publishing high quality articles. It gives a platform to the authors to publish their research work which can be available for everyone across the globe to read. The best thing about JCDR is that the full articles of all medical specialties are available as pdf/html for reading free of cost or without institutional subscription, which is not there for other journals. For those who have problem in writing manuscript or do statistical work, JCDR comes for their rescue.
The journal has a monthly publication and the articles are published quite fast. In time compared to other journals. The on-line first publication is also a great advantage and facility to review one's own articles before going to print. The response to any query and permission if required, is quite fast; this is quite commendable. I have a very good experience about seeking quick permission for quoting a photograph (Fig.) from a JCDR article for my chapter authored in an E book. I never thought it would be so easy. No hassles.
Reviewing articles is no less a pain staking process and requires in depth perception, knowledge about the topic for review. It requires time and concentration, yet I enjoy doing it. The JCDR website especially for the reviewers is quite user friendly. My suggestions for improving the journal is, more strict review process, so that only high quality articles are published. I find a a good number of articles in Obst. Gynae, hence, a new journal for this specialty titled JCDR-OG can be started. May be a bimonthly or quarterly publication to begin with. Only selected articles should find a place in it.
An yearly reward for the best article authored can also incentivize the authors. Though the process of finding the best article will be not be very easy. I do not know how reviewing process can be improved. If an article is being reviewed by two reviewers, then opinion of one can be communicated to the other or the final opinion of the editor can be communicated to the reviewer if requested for. This will help one’s reviewing skills.
My best wishes to Dr. Hemant Jain and all the editorial staff of JCDR for their untiring efforts to bring out this journal. I strongly recommend medical fraternity to publish their valuable research work in this esteemed journal, JCDR".



Dr. Mamta Gupta
Consultant
(Ex HOD Obs &Gynae, Hindu Rao Hospital and associated NDMC Medical College, Delhi)
Aug 2018




Dr. Rajendra Kumar Ghritlaharey

"I wish to thank Dr. Hemant Jain, Editor-in-Chief Journal of Clinical and Diagnostic Research (JCDR), for asking me to write up few words.
Writing is the representation of language in a textual medium i e; into the words and sentences on paper. Quality medical manuscript writing in particular, demands not only a high-quality research, but also requires accurate and concise communication of findings and conclusions, with adherence to particular journal guidelines. In medical field whether working in teaching, private, or in corporate institution, everyone wants to excel in his / her own field and get recognised by making manuscripts publication.


Authors are the souls of any journal, and deserve much respect. To publish a journal manuscripts are needed from authors. Authors have a great responsibility for producing facts of their work in terms of number and results truthfully and an individual honesty is expected from authors in this regards. Both ways its true "No authors-No manuscripts-No journals" and "No journals–No manuscripts–No authors". Reviewing a manuscript is also a very responsible and important task of any peer-reviewed journal and to be taken seriously. It needs knowledge on the subject, sincerity, honesty and determination. Although the process of reviewing a manuscript is a time consuming task butit is expected to give one's best remarks within the time frame of the journal.
Salient features of the JCDR: It is a biomedical, multidisciplinary (including all medical and dental specialities), e-journal, with wide scope and extensive author support. At the same time, a free text of manuscript is available in HTML and PDF format. There is fast growing authorship and readership with JCDR as this can be judged by the number of articles published in it i e; in Feb 2007 of its first issue, it contained 5 articles only, and now in its recent volume published in April 2011, it contained 67 manuscripts. This e-journal is fulfilling the commitments and objectives sincerely, (as stated by Editor-in-chief in his preface to first edition) i e; to encourage physicians through the internet, especially from the developing countries who witness a spectrum of disease and acquire a wealth of knowledge to publish their experiences to benefit the medical community in patients care. I also feel that many of us have work of substance, newer ideas, adequate clinical materials but poor in medical writing and hesitation to submit the work and need help. JCDR provides authors help in this regards.
Timely publication of journal: Publication of manuscripts and bringing out the issue in time is one of the positive aspects of JCDR and is possible with strong support team in terms of peer reviewers, proof reading, language check, computer operators, etc. This is one of the great reasons for authors to submit their work with JCDR. Another best part of JCDR is "Online first Publications" facilities available for the authors. This facility not only provides the prompt publications of the manuscripts but at the same time also early availability of the manuscripts for the readers.
Indexation and online availability: Indexation transforms the journal in some sense from its local ownership to the worldwide professional community and to the public.JCDR is indexed with Embase & EMbiology, Google Scholar, Index Copernicus, Chemical Abstracts Service, Journal seek Database, Indian Science Abstracts, to name few of them. Manuscriptspublished in JCDR are available on major search engines ie; google, yahoo, msn.
In the era of fast growing newer technologies, and in computer and internet friendly environment the manuscripts preparation, submission, review, revision, etc and all can be done and checked with a click from all corer of the world, at any time. Of course there is always a scope for improvement in every field and none is perfect. To progress, one needs to identify the areas of one's weakness and to strengthen them.
It is well said that "happy beginning is half done" and it fits perfectly with JCDR. It has grown considerably and I feel it has already grown up from its infancy to adolescence, achieving the status of standard online e-journal form Indian continent since its inception in Feb 2007. This had been made possible due to the efforts and the hard work put in it. The way the JCDR is improving with every new volume, with good quality original manuscripts, makes it a quality journal for readers. I must thank and congratulate Dr Hemant Jain, Editor-in-Chief JCDR and his team for their sincere efforts, dedication, and determination for making JCDR a fast growing journal.
Every one of us: authors, reviewers, editors, and publisher are responsible for enhancing the stature of the journal. I wish for a great success for JCDR."



Thanking you
With sincere regards
Dr. Rajendra Kumar Ghritlaharey, M.S., M. Ch., FAIS
Associate Professor,
Department of Paediatric Surgery, Gandhi Medical College & Associated
Kamla Nehru & Hamidia Hospitals Bhopal, Madhya Pradesh 462 001 (India)
E-mail: drrajendrak1@rediffmail.com
On May 11,2011




Dr. Shankar P.R.

"On looking back through my Gmail archives after being requested by the journal to write a short editorial about my experiences of publishing with the Journal of Clinical and Diagnostic Research (JCDR), I came across an e-mail from Dr. Hemant Jain, Editor, in March 2007, which introduced the new electronic journal. The main features of the journal which were outlined in the e-mail were extensive author support, cash rewards, the peer review process, and other salient features of the journal.
Over a span of over four years, we (I and my colleagues) have published around 25 articles in the journal. In this editorial, I plan to briefly discuss my experiences of publishing with JCDR and the strengths of the journal and to finally address the areas for improvement.
My experiences of publishing with JCDR: Overall, my experiences of publishing withJCDR have been positive. The best point about the journal is that it responds to queries from the author. This may seem to be simple and not too much to ask for, but unfortunately, many journals in the subcontinent and from many developing countries do not respond or they respond with a long delay to the queries from the authors 1. The reasons could be many, including lack of optimal secretarial and other support. Another problem with many journals is the slowness of the review process. Editorial processing and peer review can take anywhere between a year to two years with some journals. Also, some journals do not keep the contributors informed about the progress of the review process. Due to the long review process, the articles can lose their relevance and topicality. A major benefit with JCDR is the timeliness and promptness of its response. In Dr Jain's e-mail which was sent to me in 2007, before the introduction of the Pre-publishing system, he had stated that he had received my submission and that he would get back to me within seven days and he did!
Most of the manuscripts are published within 3 to 4 months of their submission if they are found to be suitable after the review process. JCDR is published bimonthly and the accepted articles were usually published in the next issue. Recently, due to the increased volume of the submissions, the review process has become slower and it ?? Section can take from 4 to 6 months for the articles to be reviewed. The journal has an extensive author support system and it has recently introduced a paid expedited review process. The journal also mentions the average time for processing the manuscript under different submission systems - regular submission and expedited review.
Strengths of the journal: The journal has an online first facility in which the accepted manuscripts may be published on the website before being included in a regular issue of the journal. This cuts down the time between their acceptance and the publication. The journal is indexed in many databases, though not in PubMed. The editorial board should now take steps to index the journal in PubMed. The journal has a system of notifying readers through e-mail when a new issue is released. Also, the articles are available in both the HTML and the PDF formats. I especially like the new and colorful page format of the journal. Also, the access statistics of the articles are available. The prepublication and the manuscript tracking system are also helpful for the authors.
Areas for improvement: In certain cases, I felt that the peer review process of the manuscripts was not up to international standards and that it should be strengthened. Also, the number of manuscripts in an issue is high and it may be difficult for readers to go through all of them. The journal can consider tightening of the peer review process and increasing the quality standards for the acceptance of the manuscripts. I faced occasional problems with the online manuscript submission (Pre-publishing) system, which have to be addressed.
Overall, the publishing process with JCDR has been smooth, quick and relatively hassle free and I can recommend other authors to consider the journal as an outlet for their work."



Dr. P. Ravi Shankar
KIST Medical College, P.O. Box 14142, Kathmandu, Nepal.
E-mail: ravi.dr.shankar@gmail.com
On April 2011
Anuradha

Dear team JCDR, I would like to thank you for the very professional and polite service provided by everyone at JCDR. While i have been in the field of writing and editing for sometime, this has been my first attempt in publishing a scientific paper.Thank you for hand-holding me through the process.


Dr. Anuradha
E-mail: anuradha2nittur@gmail.com
On Jan 2020

Important Notice

Case Series
Year : 2023 | Month : June | Volume : 17 | Issue : 6 | Page : OR01 - OR03 Full Version

Joubert Syndrome with Renal and Cerebral Manifestations: A Case Series of Three Siblings


Published: June 1, 2023 | DOI: https://doi.org/10.7860/JCDR/2023/63675.18046
Sushant Kumar, Ashok Bhat

1. Professor, Department of Nephrology, Kasturba Medical College, Manipal Academy of Higher Education, Mangalore, Karnataka, India. 2. Associate Professor, Department of Nephrology, Kasturba Medical College, Manipal Academy of Higher Education, Mangalore, Karnataka, India.

Correspondence Address :
Ashok Bhat,
Associate Professor, Department of Nephrology, KMC Hospital, Ambedkar Circle, Mangalore, Karnataka, India.
E-mail: ashokbhatdoc@gmail.com

Abstract

Joubert syndrome is a rare genetic disorder. Marie Joubert made the first official diagnosis of the syndrome in 1969. It is characterised by aberrant neurodevelopment and a complex midbrain-hindbrain malformation which can be seen on the Magnetic Resonance Imaging (MRI) as molar tooth sign. The present case series reports three female siblings from a consanguineous marriage. The first child had delayed developmental milestones, ataxia, mental retardation and presented with advanced renal failure and succumbed to uremic complications. The second and third siblings also had similar clinical findings and the diagnosis of Joubert syndrome was confirmed by the presence of molar tooth sign on MRI. The presence of renal failure in them was detected earlier than the first sibling with favourable outcome in both. The characteristic symptoms of Joubert syndrome include developmental delay, intellectual disability, ocular abnormalities, and lack of control over voluntary movements. Each sibling of an affected individual has a 25% chance of developing the disease, a 50% chance of being an asymptomatic carrier, and a 25% chance of being not affected and not being a carrier. Renal involvement occurs in approximately one third of patients. In the present case series, all the siblings were affected by the syndrome and developed renal failure which is extremely rare. Failure to evaluate the renal function in these patients can result in delayed presentation with adverse outcome as seen in the first sibling. The case series highlights the importance of considering this disorder in the differential diagnosis of chronic kidney disease, especially in cases with a family history and other suggestive symptoms and the need for early recognition and management of the disorder, as early intervention and supportive care can improve the patient’s quality of life and prognosis.

Keywords

Developmental delay, Mental retardation, Molar tooth sign, Ocular abnormality, Renal failure

An uncommon genetically heterogeneous illness with autosomal recessive inheritance is Joubert syndrome (1). It is characterised by aberrant eye movements, developmental delay, and respiratory irregularities (2), as well as a characteristic brainstem and cerebellum malformation known as the “molar tooth sign” on MRI (2). Numerous additional neurological, intellectual, physical, and organ involvement symptoms are frequently present along with it. Here, we provide a series of cases involving three siblings who were born into the same consanguineous union and who displayed the typical Joubert syndrome signs, such as missed developmental milestones, mental retardation, visual abnormalities, and chronic renal illness. This case study series intends to draw attention to the rarity of the presentation and importance of early treatment.

Case Report

Case 1

A 12-year-old female child presented to the emergency in an unconscious state. She was the first child to parents with consanguineous marriage. She was born by normal vaginal delivery. The developmental milestones were markedly delayed. She could sit with support at three years and walk with support at seven years. Her speech was impaired, and she had history of difficulty in coordinating her limb movements. She also had history of nocturnal enuresis.

On physical examination, patient was comatose and had rapid deep breathing. Her blood pressure was 96/70 mmHg with pulse rate of 110/min. The laboratory evaluation showed serum creatinine of 9 mg/dL and urea of 220 mg/dL. She also had anaemia (Hb 7.8 g/dL)

and severe metabolic acidosis (Bicarbonate 9 mEq). Ultrasound showed bilateral shrunken echogenic kidneys. Patient was initiated on emergency haemodialysis but developed status epilepticus and succumbed to death. Although no radiological confirmation (MRI) was available, the patient was clinically diagnosed with Joubert syndrome with renal manifestation based on her history of delayed milestones, ataxia, speech abnormalities and evaluation of her younger siblings who showed classical symptoms and signs of Joubert’s syndrome.

Case 2

An 11-year-old female younger sibling of case 1 was brought to Nephrology Outpatient Department with complaint of polyuria and nocturnal enuresis. She was born at term by vaginal delivery. There was history of delayed milestones. She could sit by the age of two years and walk by seven years. Her mother also had noticed that her gait was abnormal, had slurring of speech and abnormal eye movements. On examination, she had a broad forehead, nystagmoid movement of eyes, hypotonia in all limbs and broad-based ataxic gait. There was no oedema, and her blood pressure was normal. Her IQ test revealed a below average score of 70.

The patient’s serum creatinine was 8 mg/dL and urea was 140 mg/dL. She had anaemia (Hb 8.4 gm/dL). Ultrasound showed small contracted kidneys with raised echogenicity. Axial images from a brain MRI revealed an abnormally deep interpeduncular fossa, thick, elongated, and poorly aligned superior cerebellar peduncles, and absence of cerebellar vermis, which appeared as a “molar tooth” (Table/Fig 1). Based on clinical findings, presence of molar tooth sign on MRI and the presence of renal failure, she was diagnosed as a case of Joubert syndrome with renal involvement.

She was initiated on maintenance haemodialysis and supportive care in the form of speech therapy and physiotherapy. Later, she underwent kidney transplantation and is currently doing well on maintenance immunosuppression.

Case 3

The youngest sibling six-year-old female was brought to the outpatient for evaluation by her parents. She too was born by a normal vaginal term delivery. Her developmental milestones were also delayed she could sit without support by one year and walk at four years. There was slurring of speech.

On examination, she had facial dysmorphism, nystagmus, ataxic gait like her elder sibling. Her blood pressure was normal, and she had no oedema.

Laboratory evaluation showed renal insufficiency with urea of 48 mg/dL and serum creatinine of 2.4 mg/dL. MRI imaging showed the characteristic molar tooth sign (Table/Fig 2). Ultrasound showed normal sized kidneys with mild raised echogenicity.

She was initiated on supportive care and physiotherapy and was educated in a special school. Over a period of three years, her serum creatinine progressively worsened and reached to 8 mg/dL by the age of nine years. She was then initiated on maintenance haemodialysis and subsequently underwent kidney transplantation. One year after transplantation she has normal graft function and is on maintenance immunosuppression.

Discussion

Joubert syndrome is a rare genetic disorder characterised by autosomal recessive inheritance. The incidence of this disorder is reported to be 1:100000. The three clinical criteria for diagnosis of Joubert syndrome include Molar tooth sign on MRI, hypotonia/ataxia, 2developmental delay/intellectual disability. There are 34 pathogenic gene variants which cause this syndrome of which 33 are autosomal recessive in inheritance and one is X linked (3). A unique pattern of brain malformation seen on MRI is known as the molar tooth sign. It is due to a combination of midline cerebellar vermis hypoplasia, deepened interpeduncular fossa and elongated superior cerebellar peduncles (2),(4). It is a ciliopathic disorder due to mutations in genes involved in cilia formation and function (5). Several central nervous system, ophthalmologic, renal, hepatic abnormalities have been reported in Joubert syndrome (6). Renal disease has been reported in approximately 30% of subjects (7). Cystic dysplasia and juvenile nephronophthisis are the two causes of renal failure (8). Cystic dysplasia manifests at birth as immature kidneys with foetal lobulations and multiple cysts on ultrasound. In contrast, juvenile nephronophthisis has microscopic cysts and patient manifests with polyuria, polydipsia, anaemia and renal insufficiency progressing to end stage renal disease by late 1st decade or early 2nd decade of life (9),(10).

In this case series, three siblings born to a consanguineous marriage presented with developmental delay, mental retardation, ocular abnormalities, and chronic kidney disease. The second and third siblings were diagnosed with Joubert syndrome based on the characteristic molar tooth sign on MRI and clinical findings. The first sibling could not undergo an MRI due to her early death, but her clinical presentation strongly suggested Joubert syndrome.

There have been individual case reports of renal involvement in Joubert syndrome. Cytic dysplasia and nephronophthisis causing renal failure has been described (11). Chronic tubulointerstitial nephritis has also been reported in a post mortem biopsy (12), however all three siblings having renal failure is rare and has not been reported. The renal involvement seen in the three siblings highlights the importance of considering this disorder in the differential diagnosis of chronic kidney disease, especially in cases with a family history and other suggestive symptoms. Considering the absence of cysts on ultrasound imaging, history of polyuria in the siblings and echogenic contracted kidneys and end stage renal disease in second decade of life in first two siblings and late 1st decade of life in the third sibling, the kidney involvement could have been possibly due to juvenile nephronophthisis. However, this could not be confirmed by kidney biopsy or genetic analysis. This case series also highlights the need for early recognition of chronic kidney disease and management of the same in this disorder, as early intervention and supportive care can improve the patient’s quality of life and prognosis as seen in the second and third siblings.

Conclusion

Chronic kidney disease is frequently seen in patients with Joubert syndrome. Early recognition and management can significantly improve the patient’s prognosis and quality of life. In this case series, all three siblings developed renal disease where the elder sibling succumbed to death. However, early initiation of treatment of the other two siblings significantly improved their health and quality of life. Further research is needed to increase our understanding of the underlying mechanisms and to develop new therapeutic strategies for this disorder.

References

1.
Alam S, Khatoon F, Khan N. Joubert syndrome: A case report. Bulletin of Faculty of Physical Therapy. 2021;26(1):01-03. Doi: 10.1186/s43161-021-00039-7. [crossref]
2.
Maria BL, Quisling RG, Rosainz LC, Yachnis AT, Gitten J, Dede D, et al. Molar tooth sign in Joubert syndrome: Clinical, radiologic, and pathologic significance. J Child Neurol. 1999;14(6):368-76. Doi: 10.1177/088307389901400605. [crossref][PubMed]
3.
Parisi M, Glass I. Joubert Syndrome. 2003 Jul 9 [Updated 2017 Jun 29]. In: Adam MP, Mirzaa GM, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2023. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1325/.
4.
Maria BL, Boltshauser E, Palmer SC, Tran TX. Clinical features and revised diagnostic criteria in Joubert syndrome. J Child Neurol. 1999;14(9):583-91. Doi: 10.1177/088307389901400906.[crossref][PubMed]
5.
Parisi MA, Doherty D, Chance PF, Glass IA. Joubert syndrome (and related disorders) (OMIM 213300). Eur J Hum Genet. 2007;15(5):511-21. Doi: 10.1038/ sj.ejhg.5201648. [crossref][PubMed]
6.
Gleeson JG, Keeler LC, Parisi MA, Marsh SE, Chance PF, Glass IA, et al. Molar tooth sign of the midbrain-hindbrain junction: Occurrence in multiple distinct syndromes. Am J Med Genet A. 2004;125A(2):125-34. Doi: 10.1002/ ajmg.a.20437. [crossref][PubMed]
7.
Saraiva JM, Baraitser M. Joubert syndrome: A review. Am J Med Genet. 1992;43(4):726-31. Doi: 10.1002/ajmg.1320430415. [crossref][PubMed]
8.
Satran D, Pierpont ME, Dobyns WB. Cerebello-oculo-renal syndromes including Arima, Senior-Löken and COACH syndromes: More than just variants of Joubert syndrome. Am J Med genet. 1999;86:459-69. 3.0.CO;2-C>[crossref]
9.
Saunier S, Salomon R, Antignac C. Nephronophthisis. Curr Opin Genet Dev. 2005;15(3):324-31. Doi: 10.1016/j.gde.2005.04.012. [crossref][PubMed]
10.
Hildebrandt F, Nothwang HG, Vossmerbäumer U, Springer C, Strahm B, Hoppe B, et al. Lack of large, homozygous deletions of the nephronophthisis 1 region in Joubert syndrome type B. APN Study Group. Arbeitsgemeinschaft für Pädiatrische Nephrologie. Pediatr Nephrol. 1998;12(1):16-19. [crossref][PubMed]
11.
Sönmez F, Güzünler-S¸ en M, Yilmaz D, Cömertpay G, Heise M, Çirak S, et al. Development of end-stage renal disease at a young age in two cases with Joubert syndrome. Turk J Pediatr. 2014;56(4):458-61.
12.
Shamsudheen M, Das U, Taduri G, Guditi S, Karthik R, Thakur R. A case of Joubert Syndrome with chronic kidney disease. Indian J Nephrol. 2021;31(1):61- 63. Doi: 10.4103/ijn.IJN_287_19.[crossref][PubMed]

DOI and Others

DOI: 10.7860/JCDR/2023/63675.18046

Date of Submission: Feb 21, 2023
Date of Peer Review: Apr 12, 2023
Date of Acceptance: Apr 25, 2023
Date of Publishing: Jun 01, 2023

AUTHOR DECLARATION:
• Financial or Other Competing Interests: None
• Was informed consent obtained from the subjects involved in the study? Yes
• For any images presented appropriate consent has been obtained from the subjects. Yes

PLAGIARISM CHECKING METHODS:
• Plagiarism X-checker: Mar 09, 2023
• Manual Googling: Apr 01, 2023
• iThenticate Software: Apr 21, 2023 (9%)

ETYMOLOGY: Author Origin

EMENDATIONS: 6

JCDR is now Monthly and more widely Indexed .
  • Emerging Sources Citation Index (Web of Science, thomsonreuters)
  • Index Copernicus ICV 2017: 134.54
  • Academic Search Complete Database
  • Directory of Open Access Journals (DOAJ)
  • Embase
  • EBSCOhost
  • Google Scholar
  • HINARI Access to Research in Health Programme
  • Indian Science Abstracts (ISA)
  • Journal seek Database
  • Google
  • Popline (reproductive health literature)
  • www.omnimedicalsearch.com