先天性颈椎融合畸形的病因学研究进展

Research progress of the etiology of congenital cervical fusion deformity

先天性颈椎融合畸形,即Klipple-Feil综合征(Klipple-Feil syndrome,KFS),是一种以颈椎融合为特征的先天性疾病。临床上主要表现为短颈、低后发际线与颈部活动受限三联征,并且常合并有骨关节系统、神经系统、泌尿生殖系统、心血管系统畸形等异常表现。KFS的病因学是近年来国内外学者研究的热点,已从胚胎学、遗传学、基因组学等层面进行了深入研究,但迄今为止KFS的病因学及发病机制尚不明确,仍无法用单一理论解释所有患者的发病机制。进一步明确KFS的病因学及致病机制,将为该病的早期筛查、精确诊断及合理治疗提供一定的理论依据。

Congenital cervical fusion deformity,also called Klipple-Feil syndrome(KFS),is a congenital disease characterized by cervical fusion.The clinical manifestations of KFS are short neck,low posterior hairline and limited neck movement,and often combined with abnormalities of bone joint system,nervous system,urogenital system and cardiovascular system.Etiology of KFS is a research hotspot at home and abroad.It has been studied from embryology,genetics,genomics and other aspects.But up to now,etiology and pathogenesis of KFS are not clear,and it is still unable to explain the pathogenesis of all patients with a single theory.Further identification of the etiology and pathogenic mechanism of KFS will provide a theoretical basis for early screening,accurate diagnosis and reasonable treatment of KFS.