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.
Keywords: Case report; Craniosynostosis; Crouzon syndrome; Fibroblast growth factor receptor 2; Fraternal twin; Mutation.
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