Mustari M Nasser, Faruk Muhammad, Bausat Arman, Fikry Achmad
Division of Orthopedic and Traumatology Surgery, Department of Surgery, Faculty of Medicine, Hasanuddin University, Makassar, Indonesia.
Department of Surgery, Faculty of Medicine, Hasanuddin University, Makassar, Indonesia.
Ann Med Surg (Lond). 2022 Aug 18;81:104394. doi: 10.1016/j.amsu.2022.104394. eCollection 2022 Sep.
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.
先天性马蹄内翻足(CTEV)是一种先天性残疾,其特征为足部出现高弓、内收、内翻和马蹄足畸形。尽管在印度尼西亚CTEV的发病率为每1000例活产中有0.76至3.49例,但对其病因了解甚少。CTEV包括足部固定在内收、内翻和马蹄足位,并伴有软组织异常。尽管治疗取得了进展,但残疾情况往往仍然存在。针对神经、血管、结缔组织、骨骼和肌肉等病因提出了理论模型;然而,目前可得的数据表明,轻度病例与子宫内位置有关。CTEV的病因似乎涉及遗传因素,因为其患病率因种族而异。根据所研究的群体不同,在24%至50%的病例中已确定有遗传因素。基于复杂的分离分析,最合理的遗传模式是一个单一大效应基因与多基因背景相互作用。