Patients with normocephalic pancraniosynostosis have an insidious clinical course. Because of their indistinct cranial morphology, they present late with significant symptoms of elevated intracranial pressure requiring urgent surgical decompression.
TWIST1-confirmed Saethre-Chotzen syndrome is heterogeneous and manifests as either mild or severe craniofacial deformities. Our patients with TWIST1-confirmed Saethre-Chotzen syndrome had a reoperation rate of 65 percent for Whitaker class III and IV surgical outcome, and 59 percent required a secondary intracranial procedure for recurrent supraorbital retrusion.
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