{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,14]],"date-time":"2026-10-14T10:20:53Z","timestamp":1791973253246,"version":"4.3.4"},"reference-count":12,"publisher":"S. Karger AG","issue":"1","license":[{"start":{"date-parts":[[2005,12,15]],"date-time":"2005-12-15T00:00:00Z","timestamp":1134604800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[2005,12,15]],"date-time":"2005-12-15T00:00:00Z","timestamp":1134604800000},"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":[[2006]]},"abstract":"<jats:p>We report the first case of sporadic hypochondroplasia diagnosed in utero by computed tomography (CT) three-dimensional (3D) imaging and molecular analysis at 38 weeks\u2019 gestation. Prenatal sonographic examinations performed at 32 and 35 weeks\u2019 gestation revealed a rhizomelic shortness of the long bones (femur and humerus) with macrocephaly. Based on these findings, a nonlethal form of skeletal dysplasia was suspected and a multislice CT imaging with 3D reconstruction was performed depicting skeletal abnormalities which suggested hypochondroplasia. The prenatal diagnosis was confirmed by DNA mutation analysis of the fibroblast growth receptor 3 gene.<\/jats:p>","DOI":"10.1159\/000089042","type":"journal-article","created":{"date-parts":[[2005,12,12]],"date-time":"2005-12-12T09:50:23Z","timestamp":1134381023000},"page":"18-21","source":"Crossref","is-referenced-by-count":25,"title":["Prenatal Diagnosis of Hypochondroplasia: Three-Dimensional Multislice Computed Tomography Findings and Molecular Analysis"],"prefix":"10.1159","volume":"21","author":[{"given":"O.","family":"Bonnefoy","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J.M.","family":"Delbosc","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"B.","family":"Maugey-Laulom","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"D.","family":"Lacombe","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"D.","family":"Gaye","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"F.","family":"Diard","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"127","published-online":{"date-parts":[[2005,12,15]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1111%2Fj.1749-6632.1996.tb56257.x"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1136%2Fjmg.33.9.749"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1016%2F0092-8674%2894%2990302-6"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1093%2Fhmg%2F4.11.2097"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1097%2F00003086-197507000-00036"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1136%2Fadc.60.11.1070"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1002%2Fajmg.1320360407"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1002%2F%28SICI%291096-8628%2819991126%2987%3A3%3C226%3A%3AAID-AJMG6%3E3.0.CO%3B2-S"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1002%2Fpd.746"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.1046%2Fj.1469-0705.2001.00482.x"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1002%2F%28SICI%291097-0223%28199707%2917%3A7%3C670%3A%3AAID-PD113%3E3.0.CO%3B2-8"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.1002%2F1097-0223%28200101%2921%3A1%3C68%3A%3AAID-PD994%3E3.0.CO%3B2-3"}],"container-title":["Fetal Diagnosis and Therapy"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/89042","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/89042","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,24]],"date-time":"2025-04-24T03:36:03Z","timestamp":1745465763000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000089042"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2005,12,15]]},"references-count":12,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2005,12,1]]}},"URL":"https:\/\/doi.org\/10.1159\/000089042","archive":["Portico"],"relation":{},"ISSN":["1015-3837","1421-9964"],"issn-type":[{"value":"1015-3837","type":"print"},{"value":"1421-9964","type":"electronic"}],"subject":[],"published":{"date-parts":[[2005,12,15]]}}}