{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,30]],"date-time":"2025-11-30T09:05:16Z","timestamp":1764493516001},"reference-count":7,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2005,6,3]],"date-time":"2005-06-03T00:00:00Z","timestamp":1117756800000},"content-version":"vor","delay-in-days":4112,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1994,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Three fetuses with normal chromosomes were found to have uni\u2010 or bilateral hydronephrosis during the third trimester of pregnancy. At birth, they presented with coarse face, hypertelorism, and a deep groove under the eyes. Fontanelles and sutures were wide open. Genital abnormalities were present in 2 cases. Skeletal radiographs showed delayed bone maturation, broad and dense ribs, and a wide synchondrosis between the exoccipital and supraoccipital bones. The combination of such findings suggested the diagnosis of Schinzel\u2010Giedion syndrome. Two patients died soon after birth, whereas the third one developed severe mental and motor retardation with seizures and spasticity, and died at 18 months.<\/jats:p><jats:p>Schinzel\u2010Giedion syndrome is rare and likely to be inherited as an autosomal recessive trait. So far, 13 well\u2010documented cases have been reported allowing major and minor traits of the syndrome to be distinguished. Since no genetic marker is available, the prenatal diagnosis of Schinzel\u2010Giedion syndrome relies on ultrasound examination, especially detection of renal abnormalities. \u00a9 1994 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.1320500120","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T17:02:24Z","timestamp":1118509344000},"page":"90-93","source":"Crossref","is-referenced-by-count":28,"title":["Three new cases of the Schinzel\u2010Giedion syndrome and review of the literature"],"prefix":"10.1002","volume":"50","author":[{"given":"Philippe","family":"Labrune","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Stanislas","family":"Lyonnet","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"V\u00e9ronique","family":"Zupan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marie\u2010Claire","family":"Imbert","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fran\u00e7oise","family":"Goutieres","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Philippe","family":"Hubert","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Martine","family":"Le Merrer","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2005,6,3]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.27.1.42"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.16.6.483"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(82)80524-6"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.28.8.547"},{"key":"e_1_2_1_6_1","first-page":"78A","article-title":"The Schinzel\u2010Giedion syndrome: insight into phenotype and natural history (Abstract)","volume":"25","author":"Saal HM","year":"1989","journal-title":"Pediatr Res"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320010402"},{"key":"e_1_2_1_8_1","doi-asserted-by":"crossref","unstructured":"VerloesA Mo\u00ebsD PalumboL ElmerA Fran\u00e7oisA BricteuxG(1993): Schinzel\u2010Giedion syndrome.Eur J Pediatr(in press).","DOI":"10.1007\/BF01955902"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.1320500120","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.1320500120","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,24]],"date-time":"2023-10-24T12:27:46Z","timestamp":1698150466000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1320500120"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1994,3]]},"references-count":7,"journal-issue":{"issue":"1","published-print":{"date-parts":[[1994,3]]}},"alternative-id":["10.1002\/ajmg.1320500120"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.1320500120","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[1994,3]]}}}