Apert syndrome in a newborn infant without craniosynostosis

Abstract

Apert syndrome is a rare congenital disorder characterized by irregular craniosynostosis especially of the coronal suture. We report a case of Apert syndrome confirmed by molecular genetic analysis in a newborn infant, who did not have craniosynostosis at birth. Because this disturbance in osteogenesis may vary in timing and extent, we suggest that this diagnosis be considered even in the absence of this hallmark finding.