Abstract
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.
Highlights
Congenital talipes equinovarus (CTEV) is a common developmental disorder with birth prevalence of 1–4.5 per 1000.[1]
Some aspects of the epidemiology suggest areas worthy of further study: twice as many males as females are affected[4,5,6,7] and there is evidence of the ‘Carter effect’;[8,9] 7–21%[10,11] of families report congenital talipes equinovarus (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]
Of 1504 invited families, 827 completed questionnaires. 42 families were excluded because the foot condition was not idiopathic CTEV
Summary
Congenital talipes equinovarus (CTEV) is a common developmental disorder with birth prevalence of 1–4.5 per 1000.[1] Affected feet are inclined inwards, axially rotated outwards, and point downwards, with concomitant soft tissue abnormalities.[2] Severity ranges from cases that resolve with manipulation to those requiring multiple operations with disability and discomfort persisting into later life. Previous studies have considered idiopathic CTEV as a homogenous entity that may have concealed risk factors relevant, or more important, in particular subgroups. Previous studies consider CTEV as a homogenous entity which may conceal risk factors in particular subgroups.
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