{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,21]],"date-time":"2026-05-21T07:26:55Z","timestamp":1779348415368,"version":"3.51.4"},"reference-count":13,"publisher":"SAGE Publications","issue":"5","license":[{"start":{"date-parts":[[2012,8,1]],"date-time":"2012-08-01T00:00:00Z","timestamp":1343779200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["J Child Neurol"],"published-print":{"date-parts":[[2013,5]]},"abstract":"<jats:p>This report describes a case of megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome in a 1-year-old boy, born to healthy nonconsanguineous parents. Megalencephaly and bilateral postaxial polydactyly of upper and lower limbs were noted at birth. He had profound developmental delay and moderate hypotonia. Magnetic resonance imaging (MRI) of the brain revealed hydrocephalus, polymicrogyria in both frontal lobes and perisylvian regions, and thin corpus callosum. Array-comparative genomic hybridization was normal. The patient\u2019s clinical and radiologic findings fit the classic description of megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome. The possible overlap between megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome and other similar conditions is discussed.<\/jats:p>","DOI":"10.1177\/0883073812448530","type":"journal-article","created":{"date-parts":[[2012,8,2]],"date-time":"2012-08-02T01:23:27Z","timestamp":1343870607000},"page":"651-657","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":5,"title":["Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome"],"prefix":"10.1177","volume":"28","author":[{"given":"Ariana","family":"Kariminejad","sequence":"first","affiliation":[{"name":"Kariminejad-Najmabadi Pathology and Genetics Center, Tehran, Iran"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Farid","family":"Radmanesh","sequence":"additional","affiliation":[{"name":"Neurogenetics Laboratory, Howard Hughes Medical Institute, Department of Neurosciences, University of California, San Diego, California, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ali-reza","family":"Rezayi","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neurology, Mofid Children\u2019s Hospital, Shahid Beheshti University of Medical Sciences, Tehran, Iran"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Seyed-Hasan","family":"Tonekaboni","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neurology, Mofid Children\u2019s Hospital, Shahid Beheshti University of Medical Sciences, Tehran, Iran"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Joseph G.","family":"Gleeson","sequence":"additional","affiliation":[{"name":"Neurogenetics Laboratory, Howard Hughes Medical Institute, Department of Neurosciences, University of California, San Diego, California, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"179","published-online":{"date-parts":[[2012,8,1]]},"reference":[{"key":"bibr1-0883073812448530","doi-asserted-by":"publisher","DOI":"10.1055\/s-2004-830497"},{"key":"bibr2-0883073812448530","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2006.05.001"},{"key":"bibr3-0883073812448530","doi-asserted-by":"publisher","DOI":"10.1016\/j.pediatrneurol.2010.12.009"},{"key":"bibr4-0883073812448530","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.33577"},{"key":"bibr5-0883073812448530","doi-asserted-by":"crossref","first-page":"1488","DOI":"10.1002\/ajmg.a.33408","volume":"152","author":"Verkerk AJ","year":"2010","journal-title":"Am J Med Genet A"},{"key":"bibr6-0883073812448530","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.34402"},{"key":"bibr7-0883073812448530","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32079"},{"key":"bibr8-0883073812448530","doi-asserted-by":"publisher","DOI":"10.1016\/j.pediatrneurol.2007.04.008"},{"key":"bibr9-0883073812448530","doi-asserted-by":"publisher","DOI":"10.1055\/s-2007-985908"},{"key":"bibr10-0883073812448530","doi-asserted-by":"publisher","DOI":"10.3174\/ajnr.A1566"},{"key":"bibr11-0883073812448530","doi-asserted-by":"publisher","DOI":"10.1177\/0883073808315623"},{"key":"bibr12-0883073812448530","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19980923)79:3<161::AID-AJMG2>3.0.CO;2-Q"},{"key":"bibr13-0883073812448530","doi-asserted-by":"publisher","DOI":"10.1038\/ng.826"}],"container-title":["Journal of Child Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/0883073812448530","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/full-xml\/10.1177\/0883073812448530","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/0883073812448530","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,4,29]],"date-time":"2026-04-29T20:37:09Z","timestamp":1777495029000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/10.1177\/0883073812448530"}},"subtitle":["A Case Report"],"short-title":[],"issued":{"date-parts":[[2012,8,1]]},"references-count":13,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2013,5]]}},"alternative-id":["10.1177\/0883073812448530"],"URL":"https:\/\/doi.org\/10.1177\/0883073812448530","relation":{},"ISSN":["0883-0738","1708-8283"],"issn-type":[{"value":"0883-0738","type":"print"},{"value":"1708-8283","type":"electronic"}],"subject":[],"published":{"date-parts":[[2012,8,1]]}}}