Nager综合征的研究现状

Present Status of Research in Nager Syndrome

Nager综合征是一种由第一、二鳃弓发育异常引起的罕见而复杂的先天缺陷。Nager综合征临床表现具有高度多样性,是以面骨发育不全和轴前性肢体畸形为主的疾病。对Nager综合征的诊断主要依靠临床表现,多学科间协作可以优化治疗方案,提高患者的生活质量。该文系统阐述Nager综合征的临床特征与诊断、发病机制与病因、分子遗传学研究和临床治疗,对全面了解Nager综合征有一定意义。

Nager syndrome is a rare and complex birth defect resulting from developmental abnormalities of the first and second branchial arches.The phenotype is extremely variable.The typical characteristics are acrofacial dysostosis and preaxial limb deformities.Diagnosis is made mainly based on the clinical features. Cooperation between multidisciplinary teamwork is needed to optimize the treatment strategy and improve the quality of patients′life.Here is to make a review of the clinical manifestations,diagnosis,pathogenesy,molec-ular genetical research and clinical therapy about Nager syndrome, which is helpful to comprehensively understand this malformation.