Centre for Human Genetics, Bengaluru, India.
Int J Dev Biol. 2020;64(4-5-6):383-391. doi: 10.1387/ijdb.190312mb.
Clinical dysmorphology is a medical specialty which requires training to systematically observe aberrations in facial development and to understand patterns in the recognition of underlying genetic syndromes. An understanding of normal facial embryology and structure, genetic mechanisms that contribute to facial development and the influence of age, sex, epigenetic, environmental and teratogen effects that contribute to facial dysmorphology are essential. The role of software programmes and databases in achieving diagnoses in subtler phenotypes is growing. A description of specific dysmorphisms of various parts of the human face and key genetic and mechanistic pathways are discussed in this review. Recognizing facial patterns and genetic syndromes efficiently aids in planning appropriate tests, securing an accurate diagnosis, counselling and predicting outcomes and offering interventions and therapies where available.
临床畸形学是一门医学专业，需要经过系统观察面部发育异常并理解潜在遗传综合征识别模式的培训。了解正常面部胚胎学和结构、对面部发育有贡献的遗传机制以及年龄、性别、表观遗传、环境和致畸因素对面部畸形学的影响至关重要。软件程序和数据库在实现更细微表型诊断中的作用日益增长。本文综述了人类面部各个部位的特定畸形以及关键的遗传和机制途径。有效地识别面部模式和遗传综合征有助于规划适当的测试、获得准确的诊断、咨询和预测结果，并在有条件的情况下提供干预和治疗。
