Joubert Syndrome with Orofacial Digital Features

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, m...

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Detalles Bibliográficos
Autores principales: Bhardwaj, Parveen, Sharma, Minoo, Ahluwalia, Karan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Medknow Publications & Media Pvt Ltd 2018
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5812143/
https://www.ncbi.nlm.nih.gov/pubmed/29456362
http://dx.doi.org/10.4103/jnrp.jnrp_338_17
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author Bhardwaj, Parveen
Sharma, Minoo
Ahluwalia, Karan
author_facet Bhardwaj, Parveen
Sharma, Minoo
Ahluwalia, Karan
author_sort Bhardwaj, Parveen
collection PubMed
description 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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spelling pubmed-58121432018-02-16 Joubert Syndrome with Orofacial Digital Features Bhardwaj, Parveen Sharma, Minoo Ahluwalia, Karan J Neurosci Rural Pract Case Report 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. Medknow Publications & Media Pvt Ltd 2018 /pmc/articles/PMC5812143/ /pubmed/29456362 http://dx.doi.org/10.4103/jnrp.jnrp_338_17 Text en Copyright: © 2018 Journal of Neurosciences in Rural Practice http://creativecommons.org/licenses/by-nc-sa/3.0 This is an open access article distributed under the terms of the Creative Commons Attribution-NonCommercial-ShareAlike 3.0 License, which allows others to remix, tweak, and build upon the work non-commercially, as long as the author is credited and the new creations are licensed under the identical terms.
spellingShingle Case Report
Bhardwaj, Parveen
Sharma, Minoo
Ahluwalia, Karan
Joubert Syndrome with Orofacial Digital Features
title Joubert Syndrome with Orofacial Digital Features
title_full Joubert Syndrome with Orofacial Digital Features
title_fullStr Joubert Syndrome with Orofacial Digital Features
title_full_unstemmed Joubert Syndrome with Orofacial Digital Features
title_short Joubert Syndrome with Orofacial Digital Features
title_sort joubert syndrome with orofacial digital features
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5812143/
https://www.ncbi.nlm.nih.gov/pubmed/29456362
http://dx.doi.org/10.4103/jnrp.jnrp_338_17
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