半侧颜面短小畸形(Hemifacial microsomia,HFM)是仅次于唇腭裂的最常见的先天性面部畸形,涉及颅面骨骼、肌肉、软组织、面神经、外耳及颅外器官。病变多为单侧,少数累及双侧。半侧颜面短小畸形的病因及发病机制尚不明确,文献报道的发病原因包括遗传、环境,以及两者的相互作用。本文对半侧颜面短小畸形的病因学研究进行归类和总结。

Hemifacial microsomia (HFM) is the most common congenital facial anomaly except cleft lip and palate, which involves maldevelopment of craniofacial bones, muscles, soft tissues, facial nerves, auricles and extracranial organs. The disease affects unilaterally more frequently than bilaterally. The exact etiology and pathogenesis are still unclear. The reported pathogenesis includes genetics, environment and the mutual reaction. In this paper, the etiological investigations of HFM were classified and reviewed.