华西口腔医学杂志2025，Vol.43Issue(2)：275-279,5.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
A case report of Muenke syndrome with soft cleft palate and literature review
摘要
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 coro-nal suture craniosynostosis and hearing impairment.This article reports a differential diagnosis with other craniosynosto-sis 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Key words
Muenke syndrome/FGFR3 gene mutation/craniosynostosis/soft cleft palate/hearing loss分类
医药卫生引用本文复制引用
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):275-279,5.基金项目
Research and Develop Program,West China Hospital of Stomatology Sichuan University(RD-03-202301) （RD-03-202301）
Sichuan Province Science and Technology Support Program(2024NSFSC0649) 四川大学华西口腔医院交叉项目(RD-03-202301) （2024NSFSC0649）
四川省科技厅自然科学基金面上项目(2024NSFSC0649) （2024NSFSC0649）
