1例伴有软腭裂的Muenke综合征病例报告及文献综述  

A case report of Muenke syndrome with soft cleft palate and literature review

作　　者：孙嘉琳 王艺儒 石冰[1] 贾仲林[1] Sun Jialin;Wang Yiru;Shi Bing;Jia Zhonglin(State Key Laboratory of Oral Diseases&National Center for Stomatology&National Clinical Research Center for Oral Diseases&West China Hospital of Stomatology,Sichuan University,Chengdu 610041,China)

机构地区：[1]口腔疾病防治全国重点实验室,国家口腔医学中心,国家口腔疾病临床医学研究中心,四川大学华西口腔医院唇腭裂外科,成都610041

出　　处：《华西口腔医学杂志》2025年第2期275-279,共5页West China Journal of Stomatology

基　　金：四川大学华西口腔医院交叉项目(RD-03-202301);四川省科技厅自然科学基金面上项目(2024NSFSC0649)。

摘　　要：Muenke综合征是一种常染色体显性遗传病,通常表现为单侧或双侧冠状缝早闭、大头畸形、面中部发育不全和发育迟缓。本文报道了一例伴有软腭裂的Muenke综合征患者,通过基因检测发现患者存在FGFR3基因c.749C>G(p.P250A)杂合错义突变。患者表现出冠状缝早闭、双耳听力障碍、右侧副耳和发育迟缓,接受了软腭裂修复手术。通过汇总和比较文献中伴有腭裂的Muenke综合征病例,发现该类型病例较为罕见,常见伴发症状为冠状缝早闭和听力障碍。本文还进行了与其他颅缝早闭综合征的鉴别诊断,以期为临床诊疗提供参考。Muenke syndrome is an autosomal dominant genetic disorder that is typically characterized by unilateral or bilateral coronal synostosis,macrocephaly,midface hypoplasia,and developmental delays.This article reports a case of Muenke syndrome with a soft cleft palate.A heterozygous missense mutation c.749C>G(p.P250A)was identified in the FGFR3 gene through genetic testing.The patient exhibited typical features including coronal synostosis,bilateral hearing loss,right accessory auricle,and developmental delays and underwent surgery to repair the soft cleft palate.Cases of Muenke syndrome with cleft palate in the literature are relatively rare,and common associated symptoms include coronal suture craniosynostosis and hearing impairment.This article reports a differential diagnosis with other craniosynostosis syndromes and provides a reference for clinical diagnosis and treatment.

关 键 词：Muenke综合征 FGFR3基因突变 颅缝早闭 软腭裂 听力障碍 

分 类 号：R782.2[医药卫生—口腔医学]