先天性颅颌面畸形作为口腔颌面外科的常见病,多由基因突变引起。先天性颅颌面畸形在影响患者颅颌面形态和功能的同时,多伴随有咽鼓管功能障碍和中耳炎的发生,引起听觉障碍。SH3PXD2b作为新发现的伪足受体蛋白基因,对细胞表面伪足形成、细胞外基质改建与重塑、颅颌面器官的发生有重要的意义。本文就SH3PXD2b基因、SH3PXD2b基因突变、颅颌面畸形与咽鼓管功能障碍和中耳炎等研究进展作一综述。 Congenital craniofacial deformity as a common disease of oral and maxillofacial surgery, mostly caused by gene mutations. Congenital craniomaxillofacial deformity affects craniofacial morphology and function in patients with multiple, accompanied by eustachian tube dysfunction and the occurrence of otitis media, causing hearing loss. SH3PXD2b is a newly discovered pseudopodia receptor protein gene, which is of great significance to cell pseudopodia formation, extracellular matrix remodeling and remodeling, craniomaxillofacial organogenesis. This review summarizes the progress of SH3PXD2b gene, SH3PXD2b gene mutation, craniomaxillofacial deformity, eustachian tube dysfunction and otitis media.