中国耳鼻咽喉颅底外科杂志2025，Vol.31Issue(5)：39-46,8.DOI:10.11798/j.issn.1007-1520.202525387
先天性鼻畸形相关综合征的诊疗进展
Advances in the diagnosis and treatment of syndromes related to congenital nasal malformations
摘要
Abstract
This article systematically reviews the progress in the diagnosis and treatment of congenital nasal malformation-related syndromes.Starting from the basics of embryonic development and the evolution of classification systems,it focuses on analyzing the nasal phenotypes,molecular mechanisms,and multidisciplinary treatment strategies of three types of syndromes:craniosynostosis(such as Apert syndrome),neural crest cell migration disorders(such as CHARGE syndrome),and midline developmental defects(such as Binder syndrome).Research shows that these diseases have significant clinical commonalities:multi-system involvement leads to functional needs taking precedence over aesthetic repair;complex anatomical structures;high genetic heterogeneity;and long treatment cycles with high recurrence risks.It particularly emphasizes that genetic testing can precisely identify the pathogenic mechanism,and individualized surgical intervention is the core strategy for balancing functional reconstruction and aesthetic improvement.By integrating embryological insights,genetic discoveries,and clinical practices,this review provides a systematic theoretical framework and practical reference for the diagnosis and treatment of complex congenital nasal malformation syndromes.关键词
先天性鼻畸形/Apert综合征/CHARGE综合征/Crouzon综合征/Binder综合征Key words
Congenital nasal malformations/Apert syndrome/CHARGE syndrome/Crouzon syndrome/Binder syn-drome分类
临床医学引用本文复制引用
宋楠,余庆雄,张天宇..先天性鼻畸形相关综合征的诊疗进展[J].中国耳鼻咽喉颅底外科杂志,2025,31(5):39-46,8.基金项目
上海市"科技创新行动计划"(21DZ2200700). （21DZ2200700）
