Craniofacial growth in patients with FGFR3Pro250Arg mutation after fronto-orbital advancement in infancy

The facial features of children with FGFR3Pro250Arg mutation (Muenke syndrome) differ from those with the other eponymous craniosynostotic disorders. We documented midfacial growth and position of the forehead after fronto-orbital advancement (FOA) in patients with the FGFR3 mutation. We retrospectively reviewed all patients who had an FGFR3Pro250Arg mutation and craniosynostosis. Only patients who had FOA in infancy or early childhood were included. The clinical records were evaluated for type of sutural fusion; midfacial hypoplasia and other clinical data, including age at operation; type of procedures and fixation (wire vs resorbable plate); frequency of frontal readvancement, forehead augmentation, midfacial advancement; and complications. Preoperative and postoperative sagittal orbital-globe relationship was measured by direct anthropometry. Outcome of FOA was graded according to the Whittaker classification as category I, no revision; category II, minor revisions, that is, foreheadplasty; category III, alternative bony work; category IV; redo of initial procedure (ie, secondary FOA). Midfacial position was determined by clinical examination and lateral cephalometry. A total of 21 study patients with Muenke syndrome (8 males and 13 females) were analyzed. The types of craniosynostosis were bilateral coronal (n=15), of which 3 also had concurrent sagittal fusion, and unilateral coronal (n=5). Two patients had early endoscopic suturectomy, but later required FOA. Mean age at FOA was 22.9 months (range, 3-128 months). Secondary FOA was necessary in 40% of patients (n=8), and secondary foreheadplasty in 25% (n=5) of patients. No frontal revisions were needed in the remaining 35% of patients (n=7). Mean age at initial FOA was significantly younger in the group requiring repeat FOA or foreheadplasty compared with patients who did not require revision (P