PDF(Pubmed)
Abstract：
Congenital talipes equinovarus (CTEV) is a congenital disability characterized by leg deformities in the cavus, adducts, varus, and equinus. The etiology of CTEV is poorly understood, despite its incidence ranging from 0.76 to 3.49 cases per 1000 live births in Indonesia. CTEV involves the fixation of the foot in the adducts, varus, and equinus with concurrent soft tissue anomalies. Despite advances in treatment, disability often persists. Theoretical models have been proposed for neurological, vascular, connective tissue, bone, and muscular causes; however, the currently available data suggests that mild cases are associated with intrauterine position. CTEV\'s etiology appears to involve a hereditary component, as its prevalence varies by ethnic group. Genetic factors have been identified in 24-50% of cases, depending on the community studied. Based on a complex segregation analysis, the most plausible inheritance pattern is a single large-effect gene interacting with a polygenic background.
摘要：
先天性马蹄内翻足（CTEV）是一种先天性残疾，其特征是静脉中的腿部畸形，加合物，varus,和马。对CTEV的病因了解甚少,尽管在印度尼西亚，每1000例活产婴儿的发病率为0.76至3.49例。CTEV涉及将脚固定在加合物中，varus,和马蹄并伴有软组织异常。尽管在治疗方面取得了进展，残疾往往持续存在。已经提出了神经学的理论模型，血管,结缔组织,骨头,和肌肉的原因；然而，现有数据提示轻度病例与宫内位置相关.CTEV的病因似乎涉及遗传性成分，因为它的流行程度因种族而异。在24-50％的病例中已经确定了遗传因素，取决于所研究的社区。基于复杂的离析分析,最合理的遗传模式是与多基因背景相互作用的单个大效应基因。
