一对异卵双胞胎中的克鲁宗综合征：一例病例报告及文献综述
Crouzon syndrome in a fraternal twin: A case report and review of the literature.
作者信息
Li Xiao-Jing, Su Ji-Mei, Ye Xiao-Wei
机构信息
Department of Stomatology, The Children's Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Child Health, Hangzhou 310052, Zhejiang Province, China.
出版信息
World J Clin Cases. 2022 Jun 6;10(16):5317-5323. doi: 10.12998/wjcc.v10.i16.5317.
BACKGROUND
Crouzon syndrome (CS; OMIM 123500) is an autosomal dominant inherited craniofacial disorder caused by mutations in the () gene. CS is characterized by craniofacial dysostosis, exophthalmos, and facial anomalies with hypoplastic maxilla and relative mandibular prognathism.
CASE SUMMARY
Our report involves a 6-year-old fraternal twin boy with many caries in the oral cavity who presented with characteristic features of CS based on clinical and radiographic examinations along with Sanger sequencing. The fraternal girl did not show any abnormalities indicating CS. Carious teeth and poor oral hygiene were managed promptly through administering appropriate behavior guidance, orthodontic treatment was planned, and preventive procedures were described.
CONCLUSION
CS could occur in a fraternal twin caused by a de novo mutation of the gene. Oral hygiene instruction, preventive programs on oral hygiene, orthodontic treatment, and maxillary osteotomy were required for treatment.
背景
克鲁宗综合征（CS；OMIM 123500）是一种常染色体显性遗传的颅面疾病，由（）基因突变引起。CS的特征为颅面骨发育不全、眼球突出，以及伴有上颌骨发育不全和相对下颌前突的面部畸形。
病例摘要
我们的报告涉及一名6岁的异卵双胞胎男孩，其口腔内有多处龋齿，经临床、影像学检查及桑格测序显示具有CS的特征性表现。其异卵双胞胎女孩未表现出任何提示CS的异常。通过给予适当的行为指导及时处理了龋齿和口腔卫生差的问题，制定了正畸治疗计划，并描述了预防措施。
结论
CS可因基因的新发突变发生在异卵双胞胎中。治疗需要进行口腔卫生指导、口腔卫生预防计划、正畸治疗和上颌骨截骨术。
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