{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,5]],"date-time":"2026-10-05T13:25:56Z","timestamp":1791206756334,"version":"4.1.0"},"reference-count":20,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2006,2,13]],"date-time":"2006-02-13T00:00:00Z","timestamp":1139788800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Prenatal Diagnosis"],"published-print":{"date-parts":[[2006,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Objective<\/jats:title><jats:p>We report an atypical case of a fetus presenting with a combined achondroplasia and multiple craniosynostosis phenotype.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Sonographic monitoring in conjunction with molecular genetic analysis was performed in a 32\u2010gestational weeks fetus.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Sonographic findings were consistent with a diagnosis of achondroplasia associated with multiple\u2010suture synostosis. The most common G380R FGFR3 achondroplasia mutation was detected.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>The most common achondroplasia mutation should be considered for prenatal DNA testing in cases with ultrasound findings of achondroplasia and multiple\u2010suture synostosis. This is crucial for the genetic counselling and perinatal management of the fetus. Copyright \u00a9 2006 John Wiley &amp; Sons, Ltd.<\/jats:p><\/jats:sec>","DOI":"10.1002\/pd.1392","type":"journal-article","created":{"date-parts":[[2006,2,13]],"date-time":"2006-02-13T11:46:37Z","timestamp":1139831197000},"page":"258-261","source":"Crossref","is-referenced-by-count":14,"title":["Prenatal diagnosis of achondroplasia presenting with multiple\u2010suture synostosis: a novel association"],"prefix":"10.1002","volume":"26","author":[{"given":"Charalampos","family":"Karadimas","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dimitrios","family":"Trouvas","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"George","family":"Haritatos","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Constantinos","family":"Makatsoris","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Evangelos","family":"Dedoulis","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Voula","family":"Velissariou","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thalia","family":"Antoniadi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Angeliki","family":"Hatzaki","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael 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