{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,12]],"date-time":"2026-03-12T11:32:09Z","timestamp":1773315129875,"version":"3.50.1"},"reference-count":53,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2026,2,18]],"date-time":"2026-02-18T00:00:00Z","timestamp":1771372800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"start":{"date-parts":[[2026,2,18]],"date-time":"2026-02-18T00:00:00Z","timestamp":1771372800000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["obgyn.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Prenatal Diagnosis"],"published-print":{"date-parts":[[2026,3]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Objective<\/jats:title>\n                    <jats:p>Craniosynostosis (CS) is the second most common craniofacial birth defect after orofacial clefts. Genetic counseling is essential for reproductive planning in affected families.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>Nine fetal CS cases\u2014six Apert syndrome (AS) and three Pfeiffer syndrome (PS)\u2014with established genetic causes were retrospectively analyzed for clinical, radiological, and molecular features.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      Mean gestational age at first examination was 26.2\u00a0weeks. Four AS and two PS cases were diagnosed during the prenatal stage by ultrasonography (USG), whereas two AS and one PS cases were identified during postmortem. Common prenatal findings included polyhydramnios, high flat forehead, and syndactyly. Two of the three cases diagnosed at the postmortem stage had multiple congenital anomalies (MCA), while in the third, CS was suspected due to frontal bossing and proptosis despite the absence of classic signs. All cases carried pathogenic\n                      <jats:italic>FGFR2<\/jats:italic>\n                      variants.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>Proptosis, frontal bossing, and trigonocephaly are key prenatal indicators of CS, but their absence\u2014especially with systemic anomalies\u2014can challenge diagnosis. In cases with MCA, CS should be suspected even if classic signs are absent, particularly when syndactyly accompanies other complex abnormalities. Postmortem evaluation and molecular genetic testing are essential for definitive diagnosis, especially when clinical features are ambiguous.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/pd.70099","type":"journal-article","created":{"date-parts":[[2026,2,18]],"date-time":"2026-02-18T14:49:07Z","timestamp":1771426147000},"page":"438-447","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Prenatal and Postmortem Characterization of\n                    <i>FGFR2<\/i>\n                    \u2010Related Fetal Craniosynostosis: Emphasizing Rare and Atypical Anomalies"],"prefix":"10.1002","volume":"46","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-8777-3548","authenticated-orcid":false,"given":"Volkan","family":"Karaman","sequence":"first","affiliation":[{"name":"Department of Medical Genetics \u0130stanbul Faculty of Medicine \u0130stanbul University  \u0130stanbul T\u00fcrkiye"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ay\u00e7a Dilruba","family":"Aslanger","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics \u0130stanbul Faculty of Medicine \u0130stanbul University  \u0130stanbul T\u00fcrkiye"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tu\u011fba Sara\u00e7","family":"Sivrikoz","sequence":"additional","affiliation":[{"name":"Division of Perinatology Department of Obstetrics and Gynecology \u0130stanbul Faculty of Medicine \u0130stanbul University  \u0130stanbul T\u00fcrkiye"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Behiye Tu\u011f\u00e7e","family":"Y\u0131ld\u0131r\u0131m","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics \u0130stanbul Faculty of Medicine \u0130stanbul University  \u0130stanbul 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T\u00fcrkiye"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"\u0130brahim Halil","family":"Kalelioglu","sequence":"additional","affiliation":[{"name":"Division of Perinatology Department of Obstetrics and Gynecology \u0130stanbul Faculty of Medicine \u0130stanbul University  \u0130stanbul T\u00fcrkiye"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Melda","family":"Erdo\u011fdu","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics \u0130stanbul Faculty of Medicine \u0130stanbul University  \u0130stanbul T\u00fcrkiye"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Birsen","family":"Karaman","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics \u0130stanbul Faculty of Medicine \u0130stanbul University  \u0130stanbul T\u00fcrkiye"},{"name":"Department of Pediatric Basic Sciences Division of Medical Genetic \u0130stanbul University Institute of Child Health  Istanbul 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