1例伴有软腭裂的Muenke综合征病例报告及文献综述

doi:10.7518/hxkq.2024.2024244

华西口腔医学杂志 ›› 2025, Vol. 43 ›› Issue (2): 275-279.doi: 10.7518/hxkq.2024.2024244

1例伴有软腭裂的Muenke综合征病例报告及文献综述

孙嘉琳(), 王艺儒, 石冰, 贾仲林()

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

收稿日期:2024-06-27 修回日期:2024-09-02 出版日期:2025-04-01 发布日期:2025-03-25
通讯作者: 贾仲林 E-mail:nkujialin@163.com;zhonglinjia@scu.edu.cn
作者简介:孙嘉琳，博士，E-mail：nkujialin@163.com
基金资助:
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)

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

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

Received:2024-06-27 Revised:2024-09-02 Online:2025-04-01 Published:2025-03-25
Contact: Jia Zhonglin E-mail:nkujialin@163.com;zhonglinjia@scu.edu.cn
Supported by:
Research and Develop Program, West China Hospital of Stomatology Sichuan University(RD-03-202301);Sichuan Province Science and Technology Support Program(2024NSFSC0649)

摘要/Abstract

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。

关键词: Muenke综合征, FGFR3基因突变, 颅缝早闭, 软腭裂, 听力障碍

Abstract:

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.

Key words: Muenke syndrome, FGFR3 gene mutation, craniosynostosis, soft cleft palate, hearing loss

中图分类号:

R782.2

孙嘉琳, 王艺儒, 石冰, 贾仲林. 1例伴有软腭裂的Muenke综合征病例报告及文献综述[J]. 华西口腔医学杂志, 2025, 43(2): 275-279.

Sun Jialin, Wang Yiru, Shi Bing, Jia Zhonglin. A case report of Muenke syndrome with soft cleft palate and literature review[J]. West China Journal of Stomatology, 2025, 43(2): 275-279.

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参考文献 19

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Muenke综合征病例临床特征	本患者	Reardon等^[11]	Agochukwu等^[15]	Anderson等^[13]		?wall等^[14]
Muenke综合征病例临床特征	本患者	Reardon等^[11]	Agochukwu等^[15]	Twin 1	Twin 2	Proband 1	Proband 2	Proband 3
唇腭裂	软腭裂	腭裂	硬软腭裂	单侧完全性唇腭裂	双侧完全性唇腭裂	不完全性腭裂	腭隐裂	腭隐裂
冠状缝早闭	有	有	无	有	有	有	无	有
其他颅缝早闭	无	无	无	无	无	无	无	无
听力障碍	双侧	-	双侧	-	-	左侧	双侧	双侧
智力障碍		有	-	-	-	-	-	-
行为问题	-	-	无	-	-	无	注意力缺陷强迫症	注意力缺陷多动障碍
眼异常	-	无	斜视	-	-	斜视	无	斜视
肢体异常	-	无	无	-	-	无	短指	无

综合征	基因突变	临床特征
综合征	基因突变	单侧/双侧冠状缝早闭	多颅缝早闭	面中部发育不良	眼球突出	听力障碍	部分并指并趾	巨指/巨趾	耳廓畸形	发育迟缓
Muenke综合征	FGFR3	有	无	有	无	有	有	无	无	有
Crouzon综合征	FGFR2	有	有	有	有	无	无	无	无	无
Apert综合征	FGFR2	有	有	有	有	无	有	无	无	无
Pfeiffer综合征	FGFR1/FGFR2	有	有	有	有	有	有	有	无	无
Saethre-Chotzen综合征	TWIST1	有	无	有	无	无	有	无	有	无

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

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