{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,7]],"date-time":"2026-10-07T08:08:16Z","timestamp":1791360496068,"version":"4.3.1"},"reference-count":11,"publisher":"SAGE Publications","issue":"6","license":[{"start":{"date-parts":[[2006,6,1]],"date-time":"2006-06-01T00:00:00Z","timestamp":1149120000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Child Neurol"],"published-print":{"date-parts":[[2006,6]]},"abstract":"<jats:p>Three siblings (one boy and two girls) with Brown-Vialetto-van Laere syndrome are reported. A peculiar feature of onset with hearing loss in a patient with multiple cranial nerve palsies and a positive family history suggests this diagnosis. In our family, an autosomal recessive mode of inheritance was seen. In addition, we observed that early onset was associated with rapid deterioration and death. Optic nerve involvement and hyperintensity of the brainstem nuclei on magnetic resonance imaging (MRI) are two newfeaturesdescribedin this report.( J Child Neurol 2006;21:523\u2014525; DOI 10.2310\/7010.2006.00096).<\/jats:p>","DOI":"10.1177\/08830738060210060501","type":"journal-article","created":{"date-parts":[[2017,1,15]],"date-time":"2017-01-15T13:27:47Z","timestamp":1484486867000},"page":"523-525","source":"Crossref","is-referenced-by-count":13,"title":["Pontobulbar Palsy and Neurosensory Deafness (Brown-Vialetto-van Laere Syndrome) With Hyperintense Brainstem Nuclei on Magnetic Resonance Imaging: New Finding in Three Siblings"],"prefix":"10.1177","volume":"21","author":[{"given":"Roshan","family":"Koul","sequence":"first","affiliation":[{"name":"Division of Paediatric Neurology, Sultan Qaboos University Hospital Al-Khod, Sultanate of Oman"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rajeev","family":"Jain","sequence":"additional","affiliation":[{"name":"Department of Radiology, Sultan Qaboos University Hospital Al-Khod, Sultanate of Oman"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alexander","family":"Chacko","sequence":"additional","affiliation":[{"name":"Division of Paediatric Neurology, Sultan Qaboos University Hospital Al-Khod, Sultanate of Oman"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Amna","family":"Alfutaisi","sequence":"additional","affiliation":[{"name":"Division of Paediatric Neurology, Sultan Qaboos University Hospital Al-Khod, Sultanate of Oman"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Javad","family":"Hashim","sequence":"additional","affiliation":[{"name":"Department of Child Health, Sultan Qaboos University Hospital Al-Khod, Sultanate of Oman"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jacob","family":"Chacko","sequence":"additional","affiliation":[{"name":"Department of Medicine Sultan Qaboos University Hospital Al-Khod, Sultanate of Oman"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"179","published-online":{"date-parts":[[2006,6,1]]},"reference":[{"key":"bibr-0","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(20000515)92:2<117::AID-AJMG7>3.0.CO;2-C"},{"key":"bibr-1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.27.3.176"},{"key":"bibr-2","unstructured":"Fenichel GM: Lower bainstem and cranial nerves dysfunction, in Fenichel GM (ed): Clinical Pediatric Neurology. 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