Plea for systematic prenatal genes panel testing when facing isolated craniosynostosis on fetal imaging

Abstract

Background: Prenatal diagnosis of craniosynostosis remains rare and challenging, easier in syndromes with craniosynostosis due to the association with other sonographic anomalies. Crouzon syndrome is the most frequent syndrome with craniosynostosis but is difficult to detect antenatally because of mild skull deformation without specific associated anomaly during gestation.

Case: This report presents the case of a fetus with Crouzon syndrome related to the variant c.1646A>C in exon 14 of the FGFR2 gene and presenting with apparently isolated scaphocephaly on fetal US.

Conclusion: This observation supports the interest of systematic prenatal panel genes testing when facing an apparently isolated craniosynostosis diagnosed on fetal imaging, even if non-syndromic craniosynostosis are much more frequent in such situation.

Teaching points: Syndromic craniosynostosis can appear as apparently isolated form on fetal imaging. Systematic prenatal panel genes testing can be contributive even when facing an apparently isolated craniosynostosis on fetal imaging.