A South Australian population‐based study of congenital talipes equinovarus

Byron-Scott, Rosemary; Sharpe, Phillipa; Hasler, Carol; Cundy, Peter; Hirte, Craig; Chan, A.; Scott, H. C. F.; Baghurst, Peter; Ea, Haan

doi:10.1111/j.1365-3016.2005.00647.x

Cited by 51 publications

(38 citation statements)

References 16 publications

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“…We found a positive association between risk of CTEV and parity, in contrast to the findings of Moorthi et al (2005) [19]. Birth rank and parity have not generally been found to be associated with ICTEV risk [7,8,10,18,22]. The associations between maternal education and birth rank and risk of CTEV require further investigation in other studies.…”

Section: Discussioncontrasting

confidence: 96%

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

Cardy

Barker

Chesney

et al. 2007

BMC Musculoskelet Disord

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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.

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Section: Discussioncontrasting

confidence: 96%

“…Maternal education, which may be seen as an indicator of socioeconomic status, has been infrequently reported and findings are inconsistent with positive [7], inverse [19] and no association [18] reported. The studies vary in their categorisation of 'further education'.…”

Section: Discussionmentioning

confidence: 99%

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

Cardy

Barker

Chesney

et al. 2007

BMC Musculoskelet Disord

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“…Earlier studies have found the same (Gurnett et al 2008, Dobbs et al 2009, Parker et al 2009). Moreover, we found that male sex was a strong risk factor, which also supports previous studies (Byron-Scott et al 2005, Carey et al 2005, Dickinson et al 2008). …”

Section: Discussionsupporting

confidence: 92%

Congenital talipes equinovarus: an epidemiological study in Sicily

Pavone¹,

Bianca²,

Grosso³

et al. 2012

Acta Orthopaedica

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Background and purposeCongenital talipes equinovarus (clubfoot) can present in 2 forms: “syndromic”, in which other malformations exist, and the more common “idiopathic” form, where there are no other associated malformations. We analyzed the epidemiology of congenital talipes equinovarus in the Sicilian population, looking for potential etiological factors.Patients and methodsAmong the 801,324 live births recorded between January 1991 and December 2004, 827 cases were registered (560 males; M/F sex ratio: 2.1). Control infants were randomly selected from a historical cohort of live births without any major congenital malformations.ResultsA positive family history of clubfoot, gender, and maternal smoking were found to be risk factors for clubfoot. Patients with clubfoot were born most frequently during the period January–March. No association was found between clubfoot and reproductive history, peri-conceptional maternal drug exposure, maternal education, or ethnicity.InterpretationOur findings emphasize the importance of birth defects surveillance programs and their usefulness in investigating potential risk factors.

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“…Although genetic and lifestyle/environmental factors are thought to be aetiologically relevant, the genetic model is unclear and little is known about non-genetic risk factors [3]. However, some aspects of the epidemiology suggest areas worthy of further study: twice as many males as females are affected[4]–[7] and there is evidence of the ‘Carter effect’ (higher risk in relatives of affected females);[8], [9] 7–21%[10], [11] of families report CTEV in first-degree relatives, and one study suggests that family history modifies the association between CTEV and maternal smoking;[10] around half of affected children have bilateral CTEV[1], [4], [12], [13] and mouse studies suggest the number of affected feet is a marker for genetic load [14]. These observations raise the possibility of aetiologically distinct CTEV subgroups.…”

Section: Introductionmentioning

confidence: 99%

Is There Evidence for Aetiologically Distinct Subgroups of Idiopathic Congenital Talipes Equinovarus? A Case-Only Study and Pedigree Analysis

et al. 2011

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BackgroundIdiopathic congenital talipes equinovarus (CTEV) is a common developmental foot disorder, the aetiology of which remains largely unknown. Some aspects of the epidemiology suggest the possibility of aetiologically distinct subgroups. Previous studies consider CTEV as a homogenous entity which may conceal risk factors in particular subgroups. We investigate evidence for aetiologically distinct subgroups of CTEV.MethodsParents of 785 probands completed a postal questionnaire. Family pedigrees were compiled by telephone. Case-only analysis was used to investigate interactions between risk factors and sex of the proband, CTEV laterality and CTEV family history.ResultsThe male∶female ratio was 2.3∶1, 58% of probands were affected bilaterally and 11% had a first-second degree family history. There were modest interactions between family history and twin births (multivariate case - only odds ratio [ORca] = 3.87, 95%CI 1.19–12.62) and family history and maternal use of folic acid supplements in early pregnancy (ORca = 0.62, 95%CI 0.38–1.01); and between sex of the proband and maternal alcohol consumption during pregnancy (female, positive history and alcohol consumed: ORca = 0.33, 95%CI 0.12–0.89). Previous reports of an interaction between maternal smoking and family history were not confirmed. Relatives of female probands were affected more often than relatives of male probands.ConclusionsThese results provide tentative evidence for aetiologically distinct CTEV subgroups. They support the ‘Carter effect’, suggesting CTEV develops though a multifactorial threshold model with females requiring a higher risk factor ‘load’, and suggest areas where future aetiological investigation might focus. Large multi-centre studies are needed to further advance understanding of this common condition.

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A South Australian population‐based study of congenital talipes equinovarus

Cited by 51 publications

References 16 publications

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

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

Congenital talipes equinovarus: an epidemiological study in Sicily

Is There Evidence for Aetiologically Distinct Subgroups of Idiopathic Congenital Talipes Equinovarus? A Case-Only Study and Pedigree Analysis

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