{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,1]],"date-time":"2025-11-01T00:42:39Z","timestamp":1761957759789,"version":"build-2065373602"},"reference-count":23,"publisher":"Journal of Neurosurgery Publishing Group (JNSPG)","issue":"5","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[1998,11]]},"abstract":"<jats:p content-type=\"fine-print\">\u2713 Syringomyelia is a rare, mainly sporadic disease of the spinal cord, which is associated with 80% of cases in which a Chiari Type I malformation is also present. A mendelian transmission of syringomyelia (autosomal dominant or recessive) has been proposed in approximately 2% of reported cases. The association of syringomyelia with hereditary diseases (Noonan's syndrome, phacomatoses) has been mentioned frequently in the literature.<\/jats:p>\n<jats:p content-type=\"fine-print\">The authors report the presence of a Chiari Type I malformation accompanied by syringomyelia in two unrelated patients affected by a familial Type II blepharophimosis\u2014ptosis\u2014epicanthus inversus syndrome (BPES). The first patient was a 35-year-old woman who presented with a right C-8 root paresia. The second case involved a 20-year-old man who complained of cervical radicular pain. Both belong to families in which BPES was segregated in an autosomal dominant modality, but other family members had no known neurological symptoms. To the authors' knowledge, such a combination has never been described. Perhaps the possible involvement of a genetic component in some cases of Chiari Type I\u2014associated syringomyelia will someday be debated.<\/jats:p>","DOI":"10.3171\/jns.1998.89.5.0835","type":"journal-article","created":{"date-parts":[[2009,6,16]],"date-time":"2009-06-16T02:19:48Z","timestamp":1245118788000},"page":"835-838","source":"Crossref","is-referenced-by-count":11,"title":["Chiari Type I malformation and syringomyelia in unrelated patients with blepharophimosis"],"prefix":"10.3171","volume":"89","author":[{"given":"Philippe","family":"Paquis","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michel","family":"Lonjon","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Madeleine","family":"Brunet","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jean Claude","family":"Lambert","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Patrick","family":"Grellier","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1754","reference":[{"key":"b1","doi-asserted-by":"crossref","first-page":"213","DOI":"10.1007\/BF00207381","volume":"96","author":"Amati P","year":"1995","journal-title":"Hum Genet"},{"key":"b2","doi-asserted-by":"crossref","first-page":"157","DOI":"10.1007\/BF01401873","volume":"123","author":"Aschoff A","year":"1993","journal-title":"Acta Neurochir"},{"key":"b3","doi-asserted-by":"crossref","first-page":"753","DOI":"10.1136\/jnnp.45.8.753","volume":"45","author":"Ball MJ","year":"1982","journal-title":"J Neurol Neurosurg Psychiatry"},{"key":"b4","doi-asserted-by":"crossref","first-page":"346","DOI":"10.1136\/jnnp.38.4.346","volume":"38","author":"Bentley SJ","year":"1975","journal-title":"J Neurol Neurosurg Psychiatry"},{"key":"b5","doi-asserted-by":"crossref","first-page":"936","DOI":"10.1136\/jnnp.48.9.936","volume":"48","author":"Busis NA","year":"1985","journal-title":"J Neurol Neurosurg Psychiatry"},{"key":"b6","first-page":"160","volume":"25","author":"Chatel M","year":"1979","journal-title":"Neurochirurgie"},{"key":"b7","doi-asserted-by":"crossref","first-page":"637","DOI":"10.1007\/BF02339249","volume":"14","author":"Colombo A","year":"1993","journal-title":"Ital J Neurol Sci"},{"key":"b8","first-page":"347","volume":"45","author":"de Toni T","year":"1993","journal-title":"Minerva Pediatr"},{"doi-asserted-by":"publisher","key":"b9","DOI":"10.1097\/01241398-199509000-00014"},{"key":"b10","doi-asserted-by":"crossref","first-page":"708","DOI":"10.1007\/BF00262236","volume":"11","author":"Inci S","year":"1995","journal-title":"Childs Nerv Syst"},{"key":"b11","first-page":"101","volume":"40","author":"Kobayashi I","year":"1986","journal-title":"Jpn J Psychiatry Neurol"},{"key":"b12","first-page":"422","volume":"57","author":"Malessa R","year":"1986","journal-title":"Nervenarzt"},{"key":"b13","doi-asserted-by":"crossref","first-page":"2049","DOI":"10.1093\/hmg\/5.12.2049","volume":"5","author":"Maw M","year":"1996","journal-title":"Hum Mol Genet"},{"doi-asserted-by":"publisher","key":"b14","DOI":"10.3171\/jns.1984.61.3.0523"},{"doi-asserted-by":"publisher","key":"b15","DOI":"10.3171\/jns.1994.80.1.0003"},{"key":"b16","doi-asserted-by":"crossref","first-page":"47","DOI":"10.1136\/jmg.25.1.47","volume":"25","author":"Oley CA","year":"1988","journal-title":"J Med Genet"},{"key":"b17","doi-asserted-by":"crossref","first-page":"554","DOI":"10.1212\/WNL.22.5.554","volume":"22","author":"Paradis RW","year":"1972","journal-title":"Neurology"},{"key":"b18","first-page":"832","volume":"64","author":"Retif J","year":"1964","journal-title":"Acta Neurol Belg"},{"doi-asserted-by":"publisher","key":"b19","DOI":"10.1007\/BF00626090"},{"key":"b20","doi-asserted-by":"crossref","first-page":"434","DOI":"10.1136\/jmg.26.7.434","volume":"26","author":"Smith A","year":"1989","journal-title":"J Med Genet"},{"doi-asserted-by":"publisher","key":"b21","DOI":"10.1093\/brain\/80.1.11"},{"volume-title":"Les Dysraphies de l'Axe Nerveux et de ses Enveloppes Craniorachidiennes.","year":"1959","author":"Tridon P","key":"b22"},{"doi-asserted-by":"publisher","key":"b23","DOI":"10.1016\/0090-3019(96)85515-7"}],"container-title":["Journal of Neurosurgery"],"original-title":[],"link":[{"URL":"https:\/\/thejns.org\/view\/journals\/j-neurosurg\/89\/5\/article-p835.xml","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/thejns.org\/downloadpdf\/journals\/j-neurosurg\/89\/5\/article-p835.xml","content-type":"text\/html","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/thejns.org\/downloadpdf\/journals\/j-neurosurg\/89\/5\/article-p835.xml","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,5,28]],"date-time":"2022-05-28T03:31:27Z","timestamp":1653708687000},"score":1,"resource":{"primary":{"URL":"https:\/\/thejns.org\/view\/journals\/j-neurosurg\/89\/5\/article-p835.xml"}},"subtitle":["Report of two cases"],"short-title":[],"issued":{"date-parts":[[1998,11]]},"references-count":23,"journal-issue":{"issue":"5"},"URL":"https:\/\/doi.org\/10.3171\/jns.1998.89.5.0835","relation":{},"ISSN":["0022-3085"],"issn-type":[{"type":"print","value":"0022-3085"}],"subject":[],"published":{"date-parts":[[1998,11]]}}}