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International Journal of Medical Science and Public Health

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Case Report Open Access


A rare case of Joubert syndrome

Jigna R Patel, Vinay Patel, Harish Trivedi, Nilesh Parekh.

Abstract
Joubert syndrome (JS) is autosomal recessive inherited disorder characterized by hypotonia, ataxia, developmental delay, intellectual disability with distinctive mid-hindbrain malformation (molar tooth sign), ocular abnormalities (e.g., pigmentary retinopathy, oculomotor apraxia, and nystagmus), renal cyst, and hepatic fibrosis. In our case, 7-year-old female child presenting with convulsion, both eye nystagmus, right eye exotropia, left eye ptosis, both eye papilloedema, developmental delay, magnetic resonance imaging brain suggestive “molar tooth appearance” of cerebellar peduncles, and “Bat wing appearance” of the prominent fourth ventricle. Chest X-ray showing cardiomegaly and C-reactive protein positive. The aim of our study is diagnosis and management of patient with JS and increase awareness about this disease and manage it as early as possible and prevent serious complication like visual impairment.

Key words: Joubert Syndrome; Nystagmus; Molar Tooth Appearance; Bat Wing Appearance


 
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How to Cite this Article
Pubmed Style

Patel JR, Patel V, Trivedi H, Parekh N. A rare case of Joubert syndrome. Int J Med Sci Public Health. 2017; 6(7): 1237-1239. doi:10.5455/ijmsph.2017.0411304052017



Web Style

Patel JR, Patel V, Trivedi H, Parekh N. A rare case of Joubert syndrome. www.scopemed.org/?mno=265404 [Access: August 17, 2017]. doi:10.5455/ijmsph.2017.0411304052017



AMA (American Medical Association) Style

Patel JR, Patel V, Trivedi H, Parekh N. A rare case of Joubert syndrome. Int J Med Sci Public Health. 2017; 6(7): 1237-1239. doi:10.5455/ijmsph.2017.0411304052017



Vancouver/ICMJE Style

Patel JR, Patel V, Trivedi H, Parekh N. A rare case of Joubert syndrome. Int J Med Sci Public Health. (2017), [cited August 17, 2017]; 6(7): 1237-1239. doi:10.5455/ijmsph.2017.0411304052017



Harvard Style

Patel, J. R., Patel, V., Trivedi, H. & Parekh, N. (2017) A rare case of Joubert syndrome. Int J Med Sci Public Health, 6 (7), 1237-1239. doi:10.5455/ijmsph.2017.0411304052017



Turabian Style

Patel, Jigna R, Vinay Patel, Harish Trivedi, and Nilesh Parekh. 2017. A rare case of Joubert syndrome. International Journal of Medical Science and Public Health , 6 (7), 1237-1239. doi:10.5455/ijmsph.2017.0411304052017



Chicago Style

Patel, Jigna R, Vinay Patel, Harish Trivedi, and Nilesh Parekh. "A rare case of Joubert syndrome." International Journal of Medical Science and Public Health 6 (2017), 1237-1239. doi:10.5455/ijmsph.2017.0411304052017



MLA (The Modern Language Association) Style

Patel, Jigna R, Vinay Patel, Harish Trivedi, and Nilesh Parekh. "A rare case of Joubert syndrome." International Journal of Medical Science and Public Health 6.7 (2017), 1237-1239. Print. doi:10.5455/ijmsph.2017.0411304052017



APA (American Psychological Association) Style

Patel, J. R., Patel, V., Trivedi, H. & Parekh, N. (2017) A rare case of Joubert syndrome. International Journal of Medical Science and Public Health , 6 (7), 1237-1239. doi:10.5455/ijmsph.2017.0411304052017



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Retraction notice [Mar 02, 2015]
Submission of article [Jul 22, 2012]


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