Prenatal and Postmortem Characterization of <i>FGFR2</i> ‐Related Fetal Craniosynostosis: Emphasizing Rare and Atypical Anomalies
Proptosis, frontal bossing, and trigonocephaly are key prenatal indicators of CS, but their absence-especially with systemic anomalies-can 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.
Authors
- Recep Has (ORCID: https://orcid.org/0000-0002-1372-8506)
- İbrahim Kalelioğlu (ORCID: https://orcid.org/0000-0002-5504-2166)
- Tuğba Saraç Sivrikoz (ORCID: https://orcid.org/0000-0001-5482-9429)
- Volkan Karaman (ORCID: https://orcid.org/0000-0001-8777-3548)
- Zehra Oya Uyguner (ORCID: https://orcid.org/0000-0002-2035-4338)
- Tuğba Kalaycı (ORCID: https://orcid.org/0000-0002-9963-5916)
- Melda Erdoğdu
- Behiye Tuğçe Yıldırım
- Suna Avcı (ORCID: https://orcid.org/0000-0003-4322-5157)
- Umut Altunoğlu
- Birsen Karaman
- Ayça Dilruba Aslanger
Institutions
- Koç University (TR)
- Haliç University (TR)
- Istanbul University (TR)
Publication Details
- Journal
- Prenatal Diagnosis
- Published
- 2026-02-18
- DOI
- https://doi.org/10.1002/pd.70099
- Primary Topic
- Craniofacial Disorders and Treatments
- Type
- article
- Field-Weighted Citation Impact
- 0.00