{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,5]],"date-time":"2026-05-05T03:40:49Z","timestamp":1777952449672,"version":"3.51.4"},"reference-count":18,"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":"<jats:p>&lt;i&gt;Objective:&lt;\/i&gt; Campomelic dysplasia (CD) is a rare skeletal dysplasia characterized by marked femoral and tibial angulations, hypoplasic scapulae, normal upper limbs and sex reversal in 3\/4 of 46,XY fetuses. Most cases are lethal in the neonatal period. Heterozygous mutations in the &lt;i&gt;SOX9&lt;\/i&gt; gene are responsible for CD. The diagnosis is not usually made until the mid-second trimester or later. &lt;i&gt;Methods:&lt;\/i&gt; We describe 2 cases of CD suspected by ultrasonography in the first trimester. &lt;i&gt;Results:&lt;\/i&gt; The 2 cases presented with hygroma colli along with anomalies in the lower but not the upper limbs. Terminations of pregnancy were obtained at 14+3 and 20+6 gestational weeks. Fetopathological examinations confirmed sonographic findings. &lt;i&gt;Conclusion:&lt;\/i&gt; When first trimester hygroma colli is accompanied by specific findings of the lower limbs, the diagnosis of CD can be investigated through &lt;i&gt;SOX9&lt;\/i&gt; mutation analysis.<\/jats:p>","DOI":"10.1159\/000176299","type":"journal-article","created":{"date-parts":[[2008,11,29]],"date-time":"2008-11-29T14:18:13Z","timestamp":1227968293000},"page":"452-457","source":"Crossref","is-referenced-by-count":15,"title":["Campomelic Dysplasia: Echographic Suspicion in the First Trimester of Pregnancy and Final Diagnosis of Two Cases"],"prefix":"10.1159","volume":"24","author":[{"given":"J.","family":"Massardier","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"P.","family":"Roth","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"L.","family":"Michel-Calemard","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R.C.","family":"Rudigoz","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R.","family":"Bouvier","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"F.","family":"Dijoud","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"P.","family":"Arnould","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"D.","family":"Combourieu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"P.","family":"Gaucherand","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"127","published-online":{"date-parts":[[2008,11,26]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1136%2Fjmg.32.6.415"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1046%2Fj.1469-0705.2000.00126.x"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1002%2Fajmg.10828"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1002%2Fajmg.1320150103"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1002%2Fajmg.a.10038"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1111%2Fj.0009-9163.2004.00307.x"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1136%2Fjmg.39.8.597"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1038%2F372525a0"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1016%2F0092-8674%2894%2990041-8"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.1002%2Fpd.935"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1002%2F%28SICI%291097-0223%28199801%2918%3A1%3C29%3A%3AAID-PD213%3E3.0.CO%3B2-N"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.1016%2FS0301-5629%2894%2900114-6"},{"key":"ref13","doi-asserted-by":"publisher","DOI":"10.1002%2Fuog.2629"},{"key":"ref14","doi-asserted-by":"publisher","DOI":"10.1002%2Fuog.2760"},{"key":"ref15","doi-asserted-by":"publisher","DOI":"10.1002%2F%28SICI%291096-8628%2819980217%2975%3A5%3C518%3A%3AAID-AJMG12%3E3.0.CO%3B2-N"},{"key":"ref16","doi-asserted-by":"publisher","DOI":"10.1159%2F000059376"},{"key":"ref17","doi-asserted-by":"publisher","DOI":"10.1002%2Fuog.1113"},{"key":"ref18","doi-asserted-by":"publisher","DOI":"10.1002%2Fuog.4001"}],"container-title":["Fetal Diagnosis and Therapy"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/176299","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/176299","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,24]],"date-time":"2025-04-24T00:24:07Z","timestamp":1745454247000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000176299"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2008]]},"references-count":18,"journal-issue":{"issue":"4","published-online":{"date-parts":[[2009,1,1]]}},"URL":"https:\/\/doi.org\/10.1159\/000176299","archive":["Portico"],"relation":{},"ISSN":["1015-3837","1421-9964"],"issn-type":[{"value":"1015-3837","type":"print"},{"value":"1421-9964","type":"electronic"}],"subject":[],"published":{"date-parts":[[2008]]}}}