FGFR2基因突变致Pfeiffer综合征1例  

A case of Pfeiffer syndrome caused by FGFR2 gene variation

作　　者：庄晰然 赵红姝 Zhuang Xiran;Zhao Hongshu(Beijing Tongren Eye Center,Beijing Tongren Hospital,Capital Medical university,Beijing Institute of Ophthalmology,Beijing Key Laboratory of Ophthalmology Visual Sciences,Beijing 100730,China)

机构地区：[1]首都医科大学附属北京同仁医院北京同仁眼科中心,北京市眼科研究所,北京市眼科学与视觉科学重点实验室,北京100730

出　　处：《中华眼科杂志》2022年第6期453-456,共4页Chinese Journal of Ophthalmology

摘　　要：2岁5个月男性患儿出生时在外院发现FGFR2杂合错义突变,诊断为Pfeiffer综合征。现因双眼眼球突出、暴露性角膜炎于首都医科大学附属北京同仁医院就诊。患儿表现为颅骨融合(三叶草样头颅),眼球突出明显,手指及脚趾畸形,肘关节强直或骨性融合,并伴有神经系统并发症及发育迟缓;患儿FGFR2(NM_01144916)基因c.679T>G(胸腺嘧啶>鸟嘌呤)、p.C227G(半胱氨酸>甘氨酸)杂合错义突变,其父母均未携带相同突变。综合临床表现及基因检测诊断为Pfeiffer综合征Ⅱ型。于全身麻醉下行双眼睑缘永久粘连术,术后病情稳定。A 29-month-old male child with FGFR2 heterozygous missense mutation at birth was diagnosed as Pfeiffer syndrome.He was treating for binocular exophthalmos and exposed keratitis in Beijing Tongren Hospital Affiliated to Capital Medical University.The child had skull fusion(clover head),obvious exophthalmos,deformity of fingers and toes,ankylosis of elbow joint or bony fusion,accompanied by neurological complications and growth retardation;FGFR2(NM_001144916)gene c.679T>G(thymine>guanine)and p.c227gG(cysteine>glycine)heterozygous missense mutations were found in the the child,and his parents did not carry the same mutation.Pfeiffer syndrome typeⅡwas diagnosed.Permanent adhesion of eyelid margin was performed under general anesthesia,and the postoperative condition was stable.

关 键 词：尖头并指(趾)畸形 突眼 受体 成纤维细胞生长因子 2型 突变 

分 类 号：R725.9[医药卫生—儿科] R771.3[医药卫生—临床医学]