Apert syndrome: Surgical outcomes and perspectives Omar Breik a, * , Antony Mahindu b , Mark H. Moore a , Cindy J. Molloy b , Stephen Santoreneos b , David J. David a a Australian Craniofacial Unit, Women's and Children's Hospital, 72 King William Rd, North Adelaide, South Australia 5006, Australia b Department of Neurosurgery, Women's and Children's Hospital, 72 King William Rd, North Adelaide, South Australia 5006, Australia article info Article history: Paper received 23 December 2015 Accepted 3 June 2016 Available online xxx Keywords: Apert syndrome Craniosynostosis Fronto-orbital advancement Transcranial surgery Monobloc advancement Posterior vault surgery abstract Purpose: Apert syndrome is a rare congenital malformation with severe craniofacial anomalies. The aim of this study was to review the outcomes of craniofacial and neurosurgical interventions in Apert syn- drome patients treated at a single institution. Materials and methods: A retrospective review of all patient records with a diagnosis of Apert syndrome assessed and managed in the Australian Craniofacial Unit (ACFU) from 1985 to 2013 was conducted. Results: A total of 94 patients were identified, and 130 transcranial procedures were performed. Of the patients, 83 underwent a fronto-orbital advancement (FOA) as their primary procedure, and 18 patients also underwent a posterior vault procedure. Twenty patients underwent a fronto-facial monobloc advancement. Overall, 70% of patients underwent at least 2 transcranial procedures. Shunts were inserted in 2 patients preoperatively and in 5 patients postoperatively for cerebrospinal fluid (CSF) leaks or acute hydrocephalus. Re-do FOAs were performed in 8 patients. Patients who underwent an FOA at the age of more than 18 months had no recurrence of raised intracranial pressure (ICP). Of 18 patients who also underwent a posterior vault procedure, 1 patient had recurrence of raised ICP. Midfacial surgery was performed early if there was evidence of obstructive sleep apnoea (OSA), but delayed midfacial surgery was preferred. Complications were reported in 18% of procedures. The most common complications were CSF leaks and acute hydrocephalus. Conclusion: Shunting is rarely required in Apert syndrome patients, confirming a predominantly nonprogressive ventriculomegaly. FOA appears to be a more stable procedure when performed at an age of more than 18 months. Undergoing a posterior vault procedure may reduce the risk of recurrent raised ICP and lead to fewer transcranial procedures needed in childhood. Midfacial surgery should be delayed until adolescence where there is no evidence of OSA, psychological disturbance, or complications of exorbitism. Complications are rare when these patients are treated by an experienced craniofacial team. © 2016 Published by Elsevier Ltd on behalf of European Association for Cranio-Maxillo-Facial Surgery. 1. Introduction In 1906, Dr Eugene Apert, a French physician, described 9 pa- tients with a condition that he named acrocephalosyndactyly, all having acrocephaly and severe syndactyly of all limbs. The syn- drome, thereafter eponymously named Apert syndrome (Apert, 1906), is rare (1/65,000 births). It is characterized by craniosynos- tosis, midfacial hypoplasia with exorbitism, syndactyly of the hands and feet, symphalangism (fusion of digital phalanges), radio- humeral fusion, and varying degrees of neurocognitive impairment. Up to 75% of patients also have an associated cleft palate or bifid uvula (Kreiborg and Cohen, 1992). Apert syndrome is an autosomal disorder, with the majority (98%) of cases arising due to gain-of- function mutations of the fibroblast growth factor receptor 2 gene (FGFR2) (Cohen et al., 1992; Ibrahimi et al., 2005). Genetic mutations discovered in 1995 by Wilkie et al. identified 2 adjacent mutations (S252W or P253R) of the FGFR2 gene on chromosome 10q in all patients with Apert syndrome (Wilkie et al., 1995). The cranial deformity, primarily due to premature fusion of the coronal suture (with various other sutures usually involved) and abnormal skull base development is described as hyper- acrobrachycephalicea steep, wide, and flattened forehead with a flat occiput (Cohen and Kreiborg, 1996). Patency of other calvarial sutures overlying the expanding underlying brain results in the developing skull shape being deformed during intrauterine life. The * Corresponding author. E-mail address: omar.breik@gmail.com (O. Breik). Contents lists available at ScienceDirect Journal of Cranio-Maxillo-Facial Surgery journal homepage: www.jcmfs.com http://dx.doi.org/10.1016/j.jcms.2016.06.001 1010-5182/© 2016 Published by Elsevier Ltd on behalf of European Association for Cranio-Maxillo-Facial Surgery. Journal of Cranio-Maxillo-Facial Surgery xxx (2016) 1e8 Please cite this article in press as: Breik O, et al., Apert syndrome: Surgical outcomes and perspectives, Journal of Cranio-Maxillo-Facial Surgery (2016), http://dx.doi.org/10.1016/j.jcms.2016.06.001