Fig. 1: Alternative and aggressive surgical protocol for severe craniosynostosis associated with FGFR2 pathogenic variant (PV).

a Majority surgical approach for patients with Pfeiffer syndrome vs. modified alternative approach for children with severe posterior constriction, including all patients with W290C. FOA fronto-orbital advancement, VP ventriculoperitoneal, LF3 Le Fort 3 distraction osteogenesis, LF2ZR Le Fort 2 distraction osteogenesis with simultaneous zygomatic repositioning, DO distraction osteogenesis. b Bone-pressure wave illustrating changes in cranial bone surface area and timing of surgeries in modified Seattle approach. c Baseline head computed tomography (CT) scan with 3-D reconstruction for patient 1 (top), patient 2 (middle), and patient 3 (bottom) prior to surgical interventions. Note multisuture craniosynostosis and thinning of cranial bones. Views include AP (anterior–posterior, left), lateral (middle), and PA (posterior–anterior, right). d Photographs from patients 1 (bottom) and 2 (top) at similar ages for comparison of phenotype. First photograph (left) is prior to surgical intervention. Front and lateral view of patients at similar stage of surgical intervention at age 7–8 years for patient 2 (top) and patient 1 (bottom) shown in second and third columns. Note softband bone conduction sound processor in place for both patients. Patient 1 has additional photographs at age 11. Corresponding photographs not available for patient 1 as she is currently 7 years of age. e Progression of CT scans for patient 1 from infancy through age 10 as she progressed through surgical intervention