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

doi:10.7518/hxkq.2024.2024244

Abstract

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

CLC Number:

R782.2

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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References 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

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