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Abstract

Journal of Neurosciences in Rural Practice. 2018 Jan-Mar; 9(1): 152-4.
doi  10.4103/jnrp.jnrp_338_17
PMID 29456362

Joubert Syndrome with Orofacial Digital Features.

Bhardwaj, Parveen Sharma, Minoo Ahluwalia, Karan

Abstract


Joubert syndrome (JS) is an autosomal recessive inherited disorder characterized by hypotonia, cerebellar vermis hypoplasia, ocular abnormalities (e.g., pigmentary retinopathy, oculomotor apraxia, and nystagmus), renal cysts, and hepatic fibrosis. Respiratory abnormalities, as apnea and hyperpnea, may be present, as well as mental retardation. Since the clinical findings of JS are quite heterogeneous, determination of radiological findings is essential.

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Association for Helping Neurosurgical Sick People. This is an open access article published by Thieme under the terms of the Creative Commons Attribution-Non Derivative-Non Commercial License, permitting copying and reproduction so long as the original work is given appropriate credit.

Contents may not be used for commercial purposes, or adapted, remixed, transformed or built upon. (https://creativecommons.org/licenses/by-nc-nd/4.0/)

This is an open-access article distributed under the terms of the Creative Commons Attribution-Non Commercial-No Derivatives License, which permits unrestricted reproduction and distribution, for non-commercial purposes only; and use and reproduction, but not distribution, of adapted material for non-commercial purposes only, provided the original work is properly cited.

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