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

DOI: 10.1186/1471-2474-8-62

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We 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.The 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.Uterine 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.Congenital talipes equinovarus (CTEV) is a common developmental disorder of the foot. It is defined as fixation of the foot in cavus, adductus, varus and equinus (i.e. inclined inwards, axially rotated outwards, and pointing downwards) with concomitant soft tissue abnormalities [1]. CTEV may be syndromic, when it is associated with other neuromuscular and neurological disorders, or idiopathic (ICTEV). Severity varies from cases that resolve with conservative treatment, to rigid, deformed feet requiring prolonged management and surgery throughout childhood and early adulthood, with persistent disability and discomfort into later life. The birth prevalence of ICTEV is between 1 and 4.5 per 1000 [2]. The mechanism by which ICTEV develops is unknown; mechanical, neurological, muscular, bony, connective tissue and vascular mechanisms have all been proposed [3]. The aetiology is not well elucidated. Whilst both genetic and environmental factors are implicated, no specific genes have been identified and little is known about environmental risk factors [4].The UK Talipes Stu


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