Pfeiffer综合征在临床罕见,呈常染色体显性遗传,其发病的遗传学基础是人成纤维细胞生长因子受体(FGFR1,FGFR2)基因突变。临床表现主要为冠状缝早闭,面中部发育不良,拇指增宽,脚趾增大。Pfeiffer综合征临床分为3型,Pfeiffer综合征II型最为严重,患儿预后差,往往早期死亡。1例妊娠 Pfeiffer syndrome in the clinical rare, autosomal dominant inheritance, the pathogenesis of the genetic basis of human fibroblast growth factor receptor (FGFR1, FGFR2) gene mutations. The main clinical manifestations of coronary suture early closure, surface dysplasia, thumb widened toes increased. Pfeiffer syndrome is clinically divided into 3 types, Pfeiffer syndrome type II is the most serious, children with poor prognosis, often early death. 1 case of pregnancy