Published online Jun 6, 2022. doi: 10.12998/wjcc.v10.i16.5317
Peer-review started: December 13, 2021
First decision: January 12, 2022
Revised: January 21, 2022
Accepted: April 2, 2022
Article in press: April 2, 2022
Published online: June 6, 2022
Processing time: 171 Days and 2.7 Hours
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.
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.
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.
Core Tip: Crouzon syndrome (CS) is an autosomal dominant inherited craniofacial disorder caused by mutations in fibroblast growth factor receptor 2, but approximately 50% of cases result from de novo mutations. This syndrome has been rarely seen and evaluated in fraternal twins, only one of whom has CS. We presented a 6-year-old fraternal twin boy diagnosed with CS who had many caries and enamel hypomineralization in the oral cavity. The boy’s parents and his fraternal twin sister did not show any abnormalities indicating CS, so we hypothesize that the fraternal twin boy’s gene mutation arose from a de novo mutation.