Pfeiffer综合征1例遗传学与临床特征  

The genetic and clinic characteristics of 1 case with Pfeiffer syndrome

作　　者：陈诚[1] 冯婧[1] 柳国胜[2] 吕晓丹[1] 朱春婵 罗建军[1] 肖政祥[1] 魏凤香[1] CHEN Cheng;FENG Jing;LIU Guosheng;LYU Xiaodan;ZHU Chunchan;LUO Jianjun;XIAO Zhengxiang;WEI Fengxiang(Department of Neonatal,Shen Zhen Longgang District Maternal and Child Health Hospital,Shen-zhen,Guangdong 518000,China;Department of Neonatal,The First Affiliated Hospital of Jinan University,Guangzhou,Guangdong 510632,China)

机构地区：[1]深圳市龙岗区妇幼保健院新生儿科,广东深圳518000 [2]暨南大学附属第一医院新生儿科,广东广州510632

出　　处：《安徽医药》2021年第3期572-574,I0005,共4页Anhui Medical and Pharmaceutical Journal

摘　　要：目的探讨Pfeiffer综合征的临床表现与遗传学特征。方法2017年11月深圳市龙岗区妇幼保健院发现1例Pfeiffer综合征病儿,通过其临床表现,影像学检查及基因检测分析其临床特征。结果病儿主诉胎龄35+2周,生后发现畸形20 min。出生即有典型的三叶草头颅及突眼、高腭弓、颈短、低耳位、外耳道闭锁等头面部畸形,以及其他骨骼发育异常表现,如肘关节强直、粗大倾斜的大拇指及大脚趾、尾椎骨外翻等畸形表现,通过基因检测分析,发现成纤维细胞生长因子受体2(FGFR2)基因变异,确诊为Pfeiffer综合征Ⅱ型。结论Pfeiffer综合征是一种罕见的常染色体显性遗传病,通过病儿典型的临床特征及FGFR2基因突变最终确诊。Objective To investigate the clinical manifestations and genetic characteristics of Pfeiffer syndrome.Methods A case of Pfeiffer syndrome was found in Longgang Maternal and Child Health Hospital of Shenzhen in November 2017.The clinical features were analyzed by its clinical manifestations,imaging examinations and genetic testing.Results The child complained of gestational age of 35+2 weeks,and deformity was found 20 minutes after birth.At birth,there were manifestations of typical clover head and exoph⁃thalmos,high palatine arch,short neck,low ear position,external auditory canal atresia and other head and facial deformities,as well as other skeletal development abnormalities,such as elbow joint stiffness,thick and inclined thumb and big toe.Genetic testing and analysis revealed mutations of FGFR2 gene,which was diagnosed as Pfeiffer syndrome typeⅡ.Conclusion Pfeiffer syndrome is a rare autosomal dominant genetic disease,which is finally diagnosed by the typical clinical features of children and fibroblast growth fac⁃tor receptor 2(FGFR2)gene mutations.

关 键 词：尖头并指(趾)畸形 染色体畸变 病理状态 体征和症状 婴儿 新生 Pfeiffer综合征 基因突变 

分 类 号：R725.9[医药卫生—儿科]