A case of Crouzon syndrome with plagiocephaly and scaphocephaly
10.3760/cma.j.issn.1009-4598.2019.02.018
- VernacularTitle: Crouzon综合征合并斜头及舟状头畸形一例
- Author:
Chenzhi LAI
1
;
Xiaolei JIN
;
Zuoliang QI
;
Xianlei ZONG
;
Guodong SONG
Author Information
1. Department of 16, Plastic Surgery Hospital, Chinese Academy of Medical Science & Peking Union Medical College, Beijing 100144, China
- Publication Type:Review
- Keywords:
Crouzon Syndrome;
Craniosynostosis;
Fibroblast growth factor receptor 2;
Psychological intervention
- From:
Chinese Journal of Plastic Surgery
2019;35(2):195-200
- CountryChina
- Language:Chinese
-
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.
