Surgical correction of the craniofacial anomalies in Apert syndrome

The craniofacial anomalies in Apert syndrome are some of the most obvious manifestations of a systemic disorder directed by an abnormal genome (pleiotropy). Although our knowledge of etiopathogenesis is woefully inadequate, imaginative surgical techniques have evolved to correct the major functional and aesthetic problems in this syndrome. During infancy, the frontal (or nasofrontal) skeleton is modeled and advanced in order to protect the proptotic globes and to expand the anterior cranial fossa. This procedure also sets the stage for midfacial advancement, accomplished in either early or late childhood. The timing depends on indications, both physiologic and psychologic. Subcranial midfacial advancement, with a variety of technical alternatives, is a safe procedure with an acceptable aesthetic outcome. For some children with prominent hypertelorbitism, a facial bipartition or another variation on orbital translocation may be indicated. By adolescence, the extent of normal mandibular growth beyond the lagging midface becomes obvious. After completion of skeletal growth, these patients benefit from adjustments of the maxilla and the mandible and by procedures to refine the forehead, eyelids, nose, and chin. Until the mechanism of acrocephalosyndactyly I is understood, further technical improvements are needed before these patients have a truly "normal" face. More attention should be focused on correction of the entire cranial vault.