A case of Crouzon syndrome with plagiocephaly and scaphocephaly / 中华整形外科杂志

ABSTRACT

In October 2017, a female patient, 3 years and 5 months of age, with Crouzon syndrome, associated with multiple craniosynostoses was admitted to Plastic Surgery Hospital. Combined intracranial and extracranial approaches of fronto-orbital advancement and cranial suture release were performed to treat plagiocephaly and scaphocephaly. The patient′s families were investigated. Corresponding mutations were detected by DNA sequencing. Therapeutic effect was satisfactory. The mutation was inherited for 5 generations. Genomic sequencing results showed that the exons of fibroblast growth factor receptor 2 gene in the child was mutated, which excessively activated downstream signals and caused craniosynostosis.