A case report of Muenke syndrome with soft cleft palate and literature review.
10.7518/hxkq.2024.2024244
- Author:
Jialin SUN
1
;
Yiru WANG
1
;
Bing SHI
1
;
Zhonglin JIA
1
Author Information
1. 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.
- Publication Type:English Abstract
- Keywords:
FGFR3 gene mutation;
Muenke syndrome;
craniosynostosis;
hearing loss;
soft cleft palate
- MeSH:
Humans;
Cleft Palate/surgery*;
Craniosynostoses/diagnosis*;
Mutation, Missense;
Palate, Soft/abnormalities*;
Receptor, Fibroblast Growth Factor, Type 3/genetics*
- From:
West China Journal of Stomatology
2025;43(2):275-279
- CountryChina
- Language:Chinese
-
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.
