{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,3]],"date-time":"2026-05-03T10:20:43Z","timestamp":1777803643160,"version":"3.51.4"},"reference-count":14,"publisher":"SAGE Publications","issue":"7","license":[{"start":{"date-parts":[[2014,7,14]],"date-time":"2014-07-14T00:00:00Z","timestamp":1405296000000},"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":[[2015,6]]},"abstract":"<jats:p>Schinzel-Giedion syndrome is a rare recognizable malformation syndrome defined by characteristic facial features, profound developmental delay, severe growth failure, and multiple congenital anomalies. The causative gene of Schinzel-Giedion syndrome, SETBP1, has been identified, but limited cases have been confirmed by molecular analysis. We present a 9-month-old girl affected by West syndrome with Schinzel-Giedion syndrome. Congenital severe hydronephrosis, typical facial features, and multiple anomalies suggested a clinical diagnosis of Schinzel-Giedion syndrome. Hypsarrhythmia occurred at 7 months of age and was temporarily controlled by adrenocorticotropic hormone (ACTH) therapy during 5 weeks. SETBP1 mutational analysis showed the presence of a recurrent mutation, p.Ile871Thr. The implications in management of Schinzel-Giedion syndrome are discussed.<\/jats:p>","DOI":"10.1177\/0883073814541468","type":"journal-article","created":{"date-parts":[[2014,7,16]],"date-time":"2014-07-16T00:54:03Z","timestamp":1405472043000},"page":"932-936","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":19,"title":["West Syndrome in a Patient With Schinzel-Giedion Syndrome"],"prefix":"10.1177","volume":"30","author":[{"given":"Fuyu","family":"Miyake","sequence":"first","affiliation":[{"name":"Division of Medical Genetics, Kanagawa Children's Medical Center, Yokohama, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yukiko","family":"Kuroda","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics, Kanagawa Children's Medical Center, Yokohama, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Takuya","family":"Naruto","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics, Kanagawa Children's Medical Center, Yokohama, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ikuko","family":"Ohashi","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics, Kanagawa Children's Medical Center, Yokohama, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kyoko","family":"Takano","sequence":"additional","affiliation":[{"name":"Division of Neurology, Kanagawa Children's Medical Center, Yokohama, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kenji","family":"Kurosawa","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics, Kanagawa Children's Medical Center, Yokohama, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"179","published-online":{"date-parts":[[2014,7,14]]},"reference":[{"key":"bibr1-0883073814541468","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320010402"},{"key":"bibr2-0883073814541468","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32277"},{"key":"bibr3-0883073814541468","doi-asserted-by":"publisher","DOI":"10.1038\/ng.581"},{"key":"bibr4-0883073814541468","doi-asserted-by":"publisher","DOI":"10.1016\/s0387-7604(02)00232-2"},{"key":"bibr5-0883073814541468","doi-asserted-by":"publisher","DOI":"10.1046\/j.1442-2042.2001.00291.x"},{"key":"bibr6-0883073814541468","doi-asserted-by":"publisher","DOI":"10.1016\/j.braindev.2011.03.010"},{"key":"bibr7-0883073814541468","doi-asserted-by":"publisher","DOI":"10.1007\/s00381-013-2047-2"},{"key":"bibr8-0883073814541468","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2010.01552.x"},{"key":"bibr9-0883073814541468","doi-asserted-by":"publisher","DOI":"10.1097\/MCD.0b013e3283518f1e"},{"key":"bibr10-0883073814541468","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19990212)82:4<344::AID-AJMG13>3.0.CO;2-H"},{"key":"bibr11-0883073814541468","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19980827)79:1<62::AID-AJMG13>3.0.CO;2-K"},{"key":"bibr12-0883073814541468","doi-asserted-by":"publisher","DOI":"10.1038\/ng.2495"},{"key":"bibr13-0883073814541468","doi-asserted-by":"publisher","DOI":"10.1038\/ng.2698"},{"key":"bibr14-0883073814541468","doi-asserted-by":"publisher","DOI":"10.1038\/ng.2696"}],"container-title":["Journal of Child Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/0883073814541468","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/full-xml\/10.1177\/0883073814541468","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/0883073814541468","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,4,29]],"date-time":"2026-04-29T20:37:14Z","timestamp":1777495034000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/10.1177\/0883073814541468"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014,7,14]]},"references-count":14,"journal-issue":{"issue":"7","published-print":{"date-parts":[[2015,6]]}},"alternative-id":["10.1177\/0883073814541468"],"URL":"https:\/\/doi.org\/10.1177\/0883073814541468","relation":{},"ISSN":["0883-0738","1708-8283"],"issn-type":[{"value":"0883-0738","type":"print"},{"value":"1708-8283","type":"electronic"}],"subject":[],"published":{"date-parts":[[2014,7,14]]}}}