Multiple synostosis syndrome type 3 caused by an FGF9 variant: a case report
10.3760/cma.j.cn113903-20240905-00611
- VernacularTitle:FGF9基因变异致多发性骨性连接综合征3型1例
- Author:
Xiaotong LI
1
;
Xiufang YANG
1
;
Shangwen SHI
1
;
Weihua JIAN
1
Author Information
1. 广东省中山市人民医院新生儿科，中山 528400
- Publication Type:Journal Article
- Keywords:
Multiple synostosis syndrome type 3;
Fibroblast growth factor 9;
Craniosynostosis;
Genetic variant;
Developmental quotient
- From:
Chinese Journal of Perinatal Medicine
2025;28(9):783-787
- CountryChina
- Language:Chinese
-
Abstract:
This report described the diagnosis and management of a case of multiple synostosis syndrome type 3 associated with a variant in the fibroblast growth factor 9 ( FGF9) gene. The neonate presented characteristic features at birth including limited flexion-extension of the right elbow, left talipes equinovarus, frontal bossing, and craniosynostosis. Whole-exome sequencing identified a heterozygous missense variant FGF9 c.566C>G (p.Pro189Arg), subsequently confirmed by Sanger sequencing as maternally inherited. This specific variant has not been previously reported in association with craniosynostosis. The infant underwent staged bilateral craniosynostosis surgeries at 2 and 3 months of age. At the 16-month follow-up, the Gesell Developmental Schedule indicated a general developmental quotient of 93 with normal performance across all functional domains, demonstrating no psychomotor delay.
