{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,27]],"date-time":"2025-10-27T15:57:16Z","timestamp":1761580636671,"version":"3.40.4"},"reference-count":14,"publisher":"S. Karger AG","issue":"4","license":[{"start":{"date-parts":[[2008,1,1]],"date-time":"2008-01-01T00:00:00Z","timestamp":1199145600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[2008,1,1]],"date-time":"2008-01-01T00:00:00Z","timestamp":1199145600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Fetal Diagn Ther"],"published-print":{"date-parts":[[2008]]},"abstract":"<i>Objective:<\/i> We report the first case of thanatophoric dysplasia (TD) successfully diagnosed in utero by a combination of 2-D ultrasound, computed tomography (CT) 3-D imaging and genetic analysis at 26 weeks\u2019 gestation. <i>Methods:<\/i> Prenatal sonographic examinations performed at 23 weeks\u2019 gestation revealed micromelic shortening of the limbs, reduced thoracic cavity and a presence of cloverleaf skull deformity. Based on these findings, a lethal form of skeletal dysplasia was suspected and a helical CT imaging with 3-D reconstruction depicted skeletal abnormalities which suggested TD. The prenatal diagnosis was affirmed on amniotic fluid cells by DNA mutation analysis of the fibroblast growth factor receptor 3 gene. <i>Results:<\/i> A missense mutation (tyrosine 373 to cysteine) was detected, and was diagnosed as TD type I. <i>Conclusion:<\/i> Helical CT imaging with 3-D reconstruction and molecular testing are useful adjuncts to 2-D ultrasonography in the diagnosis of lethal skeletal dysplasias, allowing for appropriate perinatal support including genetic counseling.<\/jats:p>","DOI":"10.1159\/000170092","type":"journal-article","created":{"date-parts":[[2008,11,5]],"date-time":"2008-11-05T12:04:46Z","timestamp":1225886686000},"page":"420-424","source":"Crossref","is-referenced-by-count":16,"title":["Prenatal Diagnosis of Thanatophoric Dysplasia by 3-D Helical Computed Tomography and Genetic Analysis"],"prefix":"10.1159","volume":"24","author":[{"given":"Seiji","family":"Tsutsumi","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hideaki","family":"Sawai","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gen","family":"Nishimura","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kiyoshi","family":"Hayasaka","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hirohisa","family":"Kurachi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"127","published-online":{"date-parts":[[2008,11,6]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1002%2Fajmg.1320310414"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1002%2F%28SICI%291096-8628%2819960102%2961%3A1%3C49%3A%3AAID-AJMG10%3E3.0.CO%3B2-W"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1002%2Fajmg.1320280521"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1002%2F%28SICI%291096-8628%2819970627%2970%3A4%3C427%3A%3AAID-AJMG18%3E3.0.CO%3B2-J"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1038%2Fng0395-321"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1093%2Fhmg%2F4.11.2175"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1093%2Fhmg%2F5.4.509"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1038%2Fng0595-11"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1002%2F%28SICI%291097-0223%28199901%2919%3A1%3C21%3A%3AAID-PD457%3E3.0.CO%3B2-5"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.1159%2F000076705"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1159%2F000089042"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.1002%2F1097-0223%28200101%2921%3A1%3C68%3A%3AAID-PD994%3E3.0.CO%3B2-3"},{"key":"ref13","doi-asserted-by":"publisher","DOI":"10.1002%2F%28SICI%291097-0223%28199707%2917%3A7%3C670%3A%3AAID-PD113%3E3.0.CO%3B2-8"},{"key":"ref14","doi-asserted-by":"publisher","DOI":"10.1002%2Fajmg.a.20012"}],"container-title":["Fetal Diagnosis and Therapy"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/170092","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/170092","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,23]],"date-time":"2025-04-23T23:59:48Z","timestamp":1745452788000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000170092"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2008]]},"references-count":14,"journal-issue":{"issue":"4","published-online":{"date-parts":[[2009,1,1]]}},"URL":"https:\/\/doi.org\/10.1159\/000170092","archive":["Portico"],"relation":{},"ISSN":["1015-3837","1421-9964"],"issn-type":[{"type":"print","value":"1015-3837"},{"type":"electronic","value":"1421-9964"}],"subject":[],"published":{"date-parts":[[2008]]}}}