Prenatal diagnosis · 2026
Prenatal and Postmortem Characterization of FGFR2-Related Fetal Craniosynostosis: Emphasizing Rare and Atypical Anomalies.
СтатьяНазвание и аннотация: Перевод в очереди
Обработка статьи · этапы, ошибки и управление
Загрузка состояния…
Ошибки и ограничения
История · было → стало
Состояние обновляется каждые 5 секунд, пока блок открыт. Процент показывается только там, где известен объём работы. Пауза останавливает продолжение этапа; текущий запрос к источнику может завершиться.
Karaman Volkan, Aslanger Ayça Dilruba, Sivrikoz Tuğba Saraç, Yıldırım Behiye Tuğçe, Avcı Şahin, Altunoğlu Umut, Kalelioglu İbrahim Halil, Erdoğdu Melda, Karaman Birsen, Has Recep, Kalaycı Tuğba, Uyguner Zehra Oya
Аннотация
OBJECTIVE: Craniosynostosis (CS) is the second most common craniofacial birth defect after orofacial clefts. Genetic counseling is essential for reproductive planning in affected families.
METHODS: Nine fetal CS cases-six Apert syndrome (AS) and three Pfeiffer syndrome (PS)-with established genetic causes were retrospectively analyzed for clinical, radiological, and molecular features.
RESULTS: Mean gestational age at first examination was 26.2 weeks. 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 FGFR2 variants.
CONCLUSIONS: 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.
METHODS: Nine fetal CS cases-six Apert syndrome (AS) and three Pfeiffer syndrome (PS)-with established genetic causes were retrospectively analyzed for clinical, radiological, and molecular features.
RESULTS: Mean gestational age at first examination was 26.2 weeks. 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 FGFR2 variants.
CONCLUSIONS: 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.