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先天性畸形是指由于各种原因引起生殖细胞(精子或卵子)、胚胎和胎儿的发育障碍,导致个体出生时机体在形态和功能上的异常状态,一般指婴儿肢体和器官解剖上的异常。先天性畸形是小儿外科中常见疾病,其病因广泛而繁杂,包括化学、射线、激素、药物、环境和遗传等多种因素影响,可单一致病或联合多因素致病,因而要明确阐明先天性畸形的病因是困难的。近年来随着遗传病因学和分子生物学的研究进展,人们对先天性畸形的基因探讨越来越深刻。本文就小儿外科中部分常见先天性畸形的基因研究进展状况作一综述。
Congenital malformations are the developmental disorders of the germ cells (spermatozoa or ovum), the embryos and the fetus due to various causes, which lead to the morphological and functional abnormalities of the body at birth, generally referring to the anatomical abnormalities of the limbs and organs of the infant. Congenital deformity is a common disease in pediatric surgery. Its etiology is extensive and complicated. It can be caused by a variety of factors such as chemistry, radiation, hormones, drugs, environment and heredity, and can be caused by single disease or combined with multi-factor disease. Therefore, The cause of sexual deformity is difficult. In recent years, with the genetic etiology and molecular biology research progress, people are more and more profound understanding of the gene of congenital malformations. This article reviews the progress of genetic research on some common congenital malformations in pediatric surgery.