Does the Mutation Type Affect the Response to Cranial Vault Expansion in Children With Apert Syndrome? : Journal of Craniofacial Surgery

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Does the Mutation Type Affect the Response to Cranial Vault Expansion in Children With Apert Syndrome?

Goodarzi, Mohammad R. MRCS*; Breakey, William F. PhD, MRCS*,†; van de Lande, Lara S. PhD, MD†,‡; Borghi, Alessandro MENG, PhD; O’Hara, Justine FRCS; Ong, Juling FRCS; James, Greg PhD, FRCS; Hayward, Richard FRCS; Schievano, Silvia PhD; Dunaway, David J. FRCS; Jeelani, Nu Owase FRCS

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The Journal of Craniofacial Surgery 34(3):p 910-913, May 2023. | DOI: 10.1097/SCS.0000000000009126


Most cases of Apert syndrome are caused by mutations in the FGFR2 gene, either Ser252Trp or Pro253Arg. In these patients, over the last decades, spring-assisted posterior vault expansion (SA-PVE) has been the technique of choice for cranial vault expansion in the Craniofacial Unit of Great Ormond Street Hospital for Children (GOSH), London. The aim of this study was to investigate if there is a difference in preoperative intracranial volume (ICV) in patients with Apert syndrome with Ser252Trp or Pro253Arg mutation and whether these mutations affect the change in ICV achieved by SA-PVE. The GOSH craniofacial SA-PVE database was used to select patients with complete genetic testing and preoperative and postoperative computed tomography scans. ICV was calculated using FSL (FMRIB Analysis Group, Oxford) and adjusted based on Apert-specific growth curves. Sixteen patients were included with 8 having Ser252Trp mutation and 8 having Pro253Arg mutation. The mean preoperative adjusted computed tomography volume for patients in the Ser252Trp group was 1137.7 cm3 and in the Pro253Arg group was 1115.8 cm3 (P=1.00). There was a significant increase in ICV following SA-PVE in all patients (P<0.001) with no difference in mean change in ICV between the groups (P=0.51). Four (50%) patients with Ser252Trp mutation and 3 (37.5%) with Pro253Arg mutations required a second operation after primary SA-PVE. The results demonstrate that regardless of the mutation present, SA-PVE was successful in increasing ICV in patients with Apert syndrome and that a repeat volume expanding procedure was required by a similar number of patients in the 2 groups.

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Copyright © 2022 by Mutaz B. Habal, MD

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