Apert syndrome is characterized by craniosynostosis, mid-facial hypoplasia, and symmetric syndactyly. Prenatal diagnosis is challenging until the skull and facial anomalies become more pronounced during the third trimester. We present a case in which typical sonographic signs of Apert syndrome were observed after 23 weeks of gestation. Following termination of the pregnancy, both clinical features such as craniofacial abnormalities and syndactyly and cranial 3D-CT images showed high correlation with the previous sonographic findings. Furthermore, genetic analysis revealed a spontaneous mutation, c.755C≥G (p.S252W), in the FGFR2 gene, with this mutation implicated in the etiology of Apert syndrome.
Keywords: Apert syndrome; cranial CT; craniosynostosis; fibroblast growth factor 2; prenatal ultrasound.
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