Cited by 58Craniofacial Disorders and TreatmentsPectus Deformity Diagnosis and TreatmentReconstructive Facial Surgery Techniques

FGFR3 P250R Mutation Increases the Risk of Reoperation in Apparent ‘Nonsyndromic’ Coronal Craniosynostosis

Thomas, Gregory P. L, Wilkie, Andrew O. M, Richards, Peter G, Wall, Steven A·2005·Journal of Craniofacial Surgery

Abstract

Many patients with a clinical diagnosis of "nonsyndromic" coronal craniosynostosis have been found to be heterozygous for the fibroblast growth factor receptor 3 (FGFR3) mutation Pro250Arg. The phenotype associated with this mutation is variable and lacks highly distinctive features, so it is difficult to diagnose on clinical examination alone. The authors present a retrospective study of 76 patients with isolated coronal synostosis who were operated on in a single dedicated craniofacial unit over 25 years. The authors investigated whether any single factor, including the presence of a FGFR3 Pro250Arg mutation, predisposed to an increased transcranial reoperation rate. Eight patients had repeat transcranial surgery for a functional indication. Heterozygosity for the FGFR3 Pro250Arg mutation, present in 29 patients in the cohort, was the only factor found to have a significant association (P=0.048) with the transcranial reoperation rate. Six patients (20.7%) with the mutation underwent reoperation on the basis of raised intracranial pressure, as compared with two patients (4.3%) without the mutation. This highlights the need for genetic analysis and long-term clinical follow-up in apparently "isolated" coronal synostosis.

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Crossref · 10.1097/01.scs.0000157024.56055.f2

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  • Coronal synostosis has a worse prognosis-more repeat surgery and persistent deformity-when the Muenke syndrome mutation is present.

    “coronal synostosis has a worse prognosis (higher risk of repeat surgery and persistent deformity) in the presence of the Muenke syndrome mutation; 48,49”

    From Craniosynostosis (2011) · cites this paper as [48]

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Authors
Thomas, G. P. L., Wilkie, A. O. M., Richards, P. G., & Wall, S. A.
Affiliations
University of Oxford (GB)
Corresponding author
  • Thomas, Gregory P. L
  • Richards, Peter G
  • Wall, Steven A
Venue
Journal of Craniofacial Surgery
Published
2005-05
Volume
16
Issue
3
Pages
347-352
ISSN
1049-2275 (ISSN-L)
OpenAlex
W2132893438
Cited by
58
References
39
Citations by year
2026: 1 · 2025: 1 · 2024: 1 · 2023: 2 · 2021: 2 · 2020: 2 · 2019: 4 · 2018: 2 · 2016: 3 · 2014: 2 · 2013: 1 · 2012: 4
FWCI
3.59
Type
journal article
Language
en
Open access
closed
Locations
  • Journal of Craniofacial Surgery (publishedVersion)
  • PubMed (publishedVersion)
Funders
Wellcome Trust
Topics
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Craniofacial Disorders and Treatments
  • Health Sciences › Medicine › Surgery › Pectus Deformity Diagnosis and Treatment
  • Health Sciences › Medicine › Surgery › Reconstructive Facial Surgery Techniques
Keywords
coronal craniosynostosis, nonsyndromic craniosynostosis, reoperation, transcranial surgery, heterozygosity, intracranial hypertension, genetic analysis, long-term follow-up
MeSH terms
Adolescent, Arginine, Child, Child, Preschool, Craniosynostoses, Craniotomy, Female, Heterozygote, Humans, Male, Proline, Protein-Tyrosine Kinases, Reoperation, Retrospective Studies, Syndrome, Point Mutation, Receptors, Fibroblast Growth Factor, Intracranial Hypertension, Amino Acid Substitution, Receptor, Fibroblast Growth Factor, Type 3

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