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Crouzon syndrome in a fraternal twin: A case report and review of the literature

Authors
  • Li, Xiao-Jing
  • Su, Ji-Mei
  • Ye, Xiao-Wei
Type
Published Article
Journal
World Journal of Clinical Cases
Publisher
Baishideng Publishing Group Inc
Publication Date
Jun 06, 2022
Volume
10
Issue
16
Pages
5317–5323
Identifiers
DOI: 10.12998/wjcc.v10.i16.5317
PMID: 35812652
PMCID: PMC9210876
Source
PubMed Central
Keywords
Disciplines
  • Case Report
License
Unknown

Abstract

BACKGROUND Crouzon syndrome (CS; OMIM 123500) is an autosomal dominant inherited craniofacial disorder caused by mutations in the fibroblast growth factor receptor 2 ( FGFR2 ) gene. CS is characterized by craniofacial dysostosis, exophthalmos, and facial anomalies with hypoplastic maxilla and relative mandibular prognathism. CASE SUMMARY Our report involves a 6-year-old fraternal twin boy with many caries in the oral cavity who presented with characteristic features of CS based on clinical and radiographic examinations along with Sanger sequencing. The fraternal girl did not show any abnormalities indicating CS. Carious teeth and poor oral hygiene were managed promptly through administering appropriate behavior guidance, orthodontic treatment was planned, and preventive procedures were described. CONCLUSION CS could occur in a fraternal twin caused by a de novo mutation of the FGFR2 gene. Oral hygiene instruction, preventive programs on oral hygiene, orthodontic treatment, and maxillary osteotomy were required for treatment.

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