Crouzon综合征1例报告  

Crouzon syndrome: A case report

作　　者：任宝芹 张世莲[2] 乔丽娜 李倩 刘长云 REN Baoqin;ZHANG Shilian;QIAO Lina;LI Qian;LIU Changyun(Department of Pediatrics,School of Clinical Medicine,Weifang Medical University,Weifang,Shandong 261053,China;Department of Pediatrics,Affiliated Hospital of Weifang Medical University,Weifang,Shandong 261053,China)

机构地区：[1]潍坊医学院临床医学院儿科学教研室,山东潍坊261053 [2]潍坊医学院附属医院儿科,山东潍坊261053

出　　处：《中国优生与遗传杂志》2022年第9期1650-1652,共3页Chinese Journal of Birth Health & Heredity

摘　　要：目的 分析1例FGFR2基因突变导致Crouzon综合征患儿的病例资料,了解该病的典型特征及分子生物学特点,为临床诊治提供依据。方法 回顾分析Crouzon综合征患儿的临床资料,完善相关辅助检查,同时采集患者及其父母的外周血,应用高通量测序目标序列捕获技术进行家系全外显子组测序,并进行遗传学分析。结果 该患儿典型临床特征主要为特殊面容(眼距宽、双眼突出、鼻梁低平、舟状颅、耳位低、上唇短、下颌前突)。经全外显子组测序结果显示FGFR2基因发生突变,染色体位置(chr10:123276891),核酸改变(c.1026(exon8)C>G),氨基酸改变(p.Cys342Trp,NM_000141)。结论 该患儿具有典型的临床特征和基因检测结果,支持诊断Crouzon综合征。Objective To analyze the data of a child with Crouzon syndrome caused by FGFR2 gene mutation, to understand the typical characteristics and molecular biological characteristics of the disease, and to provide basis for clinical diagnosis and treatment. Methods Retrospective analysis of clinical data of child with Crouzon syndrome, improvement of related auxiliary examination, at the same time, the peripheral blood of patients and their parents was collected, and the whole exon group of the family was sequenced by high-through put sequencing target sequence capture technology, and genetic analysis was performed. Results The typical clinical features of the child are special face(wide eye distance, protrusion of eyes, low bridge of nose, scaphocephaly, low-set ears, short upper lip, mandibular protrusion). The gene FGFR2 was mutated by whole exome sequencing, the chromosomal location of chr10:123276891, and nuclear acid was changed to c.1026(exon8)C>G, resulting in a change in amino acid to p.Cys342Trp, NM_000141. Conclusion The child has typical clinical features and gene detection results, which supports the diagnosis of Crouzon syndrome.

关 键 词：CROUZON综合征 FGFR2基因 儿童 

分 类 号：R782.2[医药卫生—口腔医学]