先天性马蹄内翻足的遗传相关基因研究进展

Research progress on genetic-related genes of congenital clubfoot

摘要:

先天性马蹄内翻足是一种影响双下肢肌肉、骨骼、结缔组织和血管或神经结构的先天性足畸形，其发病机制尚未明确。目前研究表明其主要与基因突变（HOXA和D、PITX1、TBX4、肌肉收缩基因）、环境因素等有关。该文综述先天性马蹄内翻足遗传相关基因的研究进展，以期为其的预防及治疗思路提供理论依据。

Abstract:

Congenital clubfoot is a congenital foot deformity that affects the muscles, bones, connective tissues, and vascular or neural structures of both lower limbs. The pathogenesis of congenital clubfoot is still not fully understood. Current research suggests that it is mainly related to gene mutations (HOXA and D, PITX1, TBX4, muscle contraction genes), environmental factors, etc. This article reviews the research progress on genetic-related genes of congenital clubfoot, aiming to provide theoretical basis for its prevention and treatment.