Isolated frontosphenoidal craniosynostosis

IFSC, a rare congenital anomaly with historically undefined etiology, may have a molecular genetic basis, as demonstrated in this case. Historically, the scarcity of reported IFSC cases linked to pathogenic mutations has limited genetic testing to syndromic craniosynostosis. However, our findings emphasize an association between IFSC and pathogenic mutations, particularly in FGFR3, warranting consideration of genetic evaluation even in nonsyndromic presentations.