Pedigree analysis and epidemiological features of idiopathic congenital talipes equinovarus in the United Kingdom: a case-control study

Abstract

BackgroundCongenital talipes equinovarus (CTEV) is a common developmental disorder of the foot, affecting between 1 and 4.5 per 1000 live births. The aetiology is not well elucidated. While both genetic and environmental factors are implicated, no specific genes have been identified and little is known about environmental risk factors.MethodsWe conducted a case-control study of idiopathic congenital talipes equinovarus (ICTEV) in the United Kingdom. 194 cases and 60 controls were recruited. Pedigrees were obtained for 167 cases.ResultsThe rank of the index pregnancy, maternal education and caesarean delivery were significantly associated with ICTEV risk in a multivariate model. There were suggestions that maternal use of folic acid supplements in the three months before the pregnancy decreased ICTEV risk, and that parental smoking during the pregnancy increased risk, although the associations were not statistically significant. One quarter of pedigrees showed a family history of CTEV, and autosomal dominant inheritance was suggested in some of these.ConclusionUterine restriction did not appear to have a strong influence on ICTEV development in our study. Large population-based studies are needed to clarify the aetiology of this common developmental disorder.

Descriptive epidemiology and predisposing factors to idiopathic talipes equinovarus in South South Nigeria

“…The findings that majority of the children affected were first-born (57.9%) of their mother was not different from results of other studies in which the association with primiparity was described (Werler et al, 2013;Cardy et al, 2007;Kancherla et al, 2010). However, this study went a step further to show the number of males and females involved even though this was found not to be statistically significant.…”

“…In our study majority of the mothers were of young age, although "maternal age has been shown to be both inversely and positively associated with clubfoot" (Cardy et al, 2007;Dickinson et al, 2008;Kancherla et al, 2010). Some studies differ in opinion in that they found no association (Werler et al, 2013;Pavone et al, 2012;Carey et al, 2005;Skelly et al, 2002).…”

“…Epidemiologic studies have consistently reported higher prevalence of idiopathic clubfoot in males and firstborn but any associations with smoking, race/ ethnicity and maternal age are not clear (Cardy et al, 2007;Dickinson et al, 2008;Kancherla et al, 2010;Pavone et al, 2012). These studies are very scanty in Nigeria and to the best of our knowledge no study has focused on idiopathic clubfoot in our country.…”

SOX9 overexpression plays a potential role in idiopathic congenital talipes equinovarus

“…This limb deformity is known as idiopathic congenital talipes equinovarus (ICTEV) (1)(2). Neurological, muscular, bony, vascular and connective tissue mechanisms have been hypothesized to be involved in the pathology of ICTEV; however, the specific roles of these mechanisms in ICTEV remain unclear.…”

“…Neurological, muscular, bony, vascular and connective tissue mechanisms have been hypothesized to be involved in the pathology of ICTEV; however, the specific roles of these mechanisms in ICTEV remain unclear. Previous studies in twins and various ethnicities, as well as pedigree analyses, have indicated that a genetic basis in combination with additional environmental factors is responsible for ICTEV (2)(3)(4)(5)(6). It is becoming increasingly clear that genetic factors are important for the pathogenesis of ICTEV.…”