{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,26]],"date-time":"2026-01-26T19:20:33Z","timestamp":1769455233547,"version":"3.49.0"},"reference-count":11,"publisher":"Scientific Scholar","issue":"01","license":[{"start":{"date-parts":[[2019,9,2]],"date-time":"2019-09-02T00:00:00Z","timestamp":1567382400000},"content-version":"vor","delay-in-days":609,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Journal of Neurosciences in Rural Practice"],"published-print":{"date-parts":[[2018,1]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:p>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.<\/jats:p>","DOI":"10.4103\/jnrp.jnrp_338_17","type":"journal-article","created":{"date-parts":[[2018,1,19]],"date-time":"2018-01-19T09:40:49Z","timestamp":1516354849000},"page":"152-154","source":"Crossref","is-referenced-by-count":8,"title":["Joubert Syndrome with Orofacial Digital Features"],"prefix":"10.25259","volume":"09","author":[{"given":"Parveen","family":"Bhardwaj","sequence":"additional","affiliation":[{"name":"Department of Pediatrics and Physiology, Indira Gandhi Medical College, Shimla, Himachal Pradesh, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Minoo","family":"Sharma","sequence":"additional","affiliation":[{"name":"Department of Pediatrics and Physiology, Indira Gandhi Medical College, Shimla, Himachal Pradesh, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Karan","family":"Ahluwalia","sequence":"additional","affiliation":[{"name":"Department of Pediatrics and Physiology, Indira Gandhi Medical College, Shimla, Himachal Pradesh, India"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"10894","published-online":{"date-parts":[[2019,9,2]]},"reference":[{"key":"key-10.4103\/0976-3147.223506-1","first-page":"143","volume-title":"Joubert syndrome: Insights into brain development, cilium biology, and complex disease","author":"Doherty","year":"2009","journal-title":"Semin Pediatr Neurol"},{"key":"key-10.4103\/0976-3147.223506-2","first-page":"423","volume-title":"\u201cJoubert syndrome\u201d revisited: Key ocular motor signs with magnetic resonance imaging correlation","author":"Maria","year":"1997","journal-title":"J Child Neurol"},{"key":"key-10.4103\/0976-3147.223506-3","first-page":"68","volume-title":"The birth prevalence of Joubert syndrome: A population based study in the Netherlands","author":"Kroes","year":"2007","journal-title":"Eur J Hum Genet"},{"key":"key-10.4103\/0976-3147.223506-4","first-page":"20","volume-title":"Joubert syndrome and related disorders","author":"Brancati","year":"2010","journal-title":"Orphanet J Rare Dis"},{"key":"key-10.4103\/0976-3147.223506-5","first-page":"435","volume-title":"Founder effect in Joubert syndrome","author":"Badhwar","year":"2000","journal-title":"Ann Neurol"},{"key":"key-10.4103\/0976-3147.223506-6","first-page":"726","volume-title":"Joubert syndrome: A review","author":"Saraiva","year":"1992","journal-title":"Am J Med Genet"},{"key":"key-10.4103\/0976-3147.223506-7","first-page":"583","volume-title":"Clinical features and revised diagnostic criteria in Joubert syndrome","author":"Maria","year":"1999","journal-title":"J Child Neurol"},{"key":"key-10.4103\/0976-3147.223506-8","unstructured":"Parisi M, Glass I. Joubert Syndrome and Related Disorders. In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, editors. GeneReviews\u00ae. Seattle (WA): University of Washington, Seattle; 1993-2016; 2003. Available from: https:\/\/www. ncbi.nlm.nih.gov\/books\/NBK1325\/#. 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