1 Department of Oral and Craniomaxillofacial Surgery, Shanghai Ninth People's Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China.
J Dent Res. 2018 Nov;97(12):1297-1305. doi: 10.1177/0022034518795609. Epub 2018 Sep 11.
Hemifacial microsomia (HFM) is a common congenital malformation of the craniofacial region. There are 3 possible pathogenic models of HFM-vascular abnormality and hemorrhage in the craniofacial region, damage to Meckel's cartilage, and the abnormal development of cranial neural crest cells-and the most plausible hypothesis is the vascular abnormality and hemorrhage model. These 3 models are interrelated, and none of them is completely concordant with all the variable manifestations of HFM. External environmental factors (e.g., thalidomide, triazene, retinoic acid, and vasoactive medications), maternal intrinsic factors (e.g., maternal diabetes), and genetic factors (e.g., the recently reported mutations in OTX2, PLCD3, and MYT1) may lead to HFM through ≥1 of these pathogenic processes. Whole genome sequencing to identify additional pathogenic variants, biological functional studies to understand the exact molecular mechanisms, and additional animal model and clinical studies with large stratified samples to elucidate the pathogenesis of HFM will be necessary. Small-molecule drugs, as well as CRISPR/CAS9-based genetic interventions, for the prevention and treatment of HFM may also be a future research hotspot.
半侧颜面短小症（HFM）是一种常见的颅面区域先天性畸形。HFM 有 3 种可能的发病模型——颅面区域的血管异常和出血、 Meckel 软骨损伤以及颅神经嵴细胞的异常发育——最合理的假设是血管异常和出血模型。这 3 种模型相互关联，没有一种模型完全符合 HFM 的所有可变表现。外部环境因素（例如，反应停、三嗪、维甲酸和血管活性药物）、母体内在因素（例如，母体糖尿病）和遗传因素（例如，最近报道的 OTX2、PLCD3 和 MYT1 突变）可能通过这些发病过程中的至少一种导致 HFM。需要进行全基因组测序以识别其他致病变体、进行生物学功能研究以了解确切的分子机制，并进行更多的动物模型和大分层样本的临床研究以阐明 HFM 的发病机制。小分子药物以及基于 CRISPR/CAS9 的基因干预可能也是预防和治疗 HFM 的未来研究热点。
