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.
Hua Xi Kou Qiang Yi Xue Za Zhi. 2025 Apr 1;43(2):275-279. doi: 10.7518/hxkq.2024.2024244.
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.
穆恩克综合征是一种常染色体显性遗传疾病，其典型特征通常为单侧或双侧冠状缝早闭、巨头畸形、面中部发育不全以及发育迟缓。本文报告了一例伴有软腭裂的穆恩克综合征病例。通过基因检测在成纤维细胞生长因子受体3（FGFR3）基因中鉴定出一个杂合错义突变c.749C>G（p.P250A）。该患者表现出典型特征，包括冠状缝早闭、双侧听力丧失、右侧副耳以及发育迟缓，并接受了软腭裂修复手术。文献中伴有腭裂的穆恩克综合征病例相对少见，常见的相关症状包括冠状缝颅骨缝早闭和听力障碍。本文报告了与其他颅骨缝早闭综合征的鉴别诊断，为临床诊断和治疗提供参考。
