Genetic epidemiology study of idiopathic talipes equinovarus

Abstract

Previous genetic studies of idiopathic talipes equinovarus (ITEV) suggest an environmental and genetic component to the etiology of ITEV. The present study was undertaken to assess the role of causal factors in the development of ITEV. A total of 285 propositi were ascertained, with detailed family history information available in 173 cases and medical records on the remaining 112 propositi. Information was collected on specific prenatal, parental, and demographic factors. No racial heterogeneity was noted among any of the factors. The overall ratio of affected males to females was 2.5:1. The incidence of twinning among all propositi was significantly increased (P=0.006) above the expected population frequency. A family history of ITEV was noted in 24.4% of all propositi studied. These findings, in addition to the detailed analysis of 53 pedigrees with ITEV history, suggest the potential role of a gene or genes operating in high-risk families to produce this foot deformity.

Late First-Trimester Invasive Prenatal Diagnosis: Results of an International Randomized Trial

“…In the general population, talipes equinovarus occurs with a frequency of approximately 0.1-0.3%. 17 Combining our observations with those in the literature produces a gestational age continuum of excess risk for talipes equinovarus after early amniocentesis, with the risk of this anomaly being inversely related to the gestational age at sampling (Table 7). In the Canadian Early and MidTrimester Amniocentesis Trial study, 13 the rate of talipes equinovarus was 1.6% (28/1,727) in the 11 ϩ0 -12 ϩ6 week amniocentesis group compared with 0.1% at 15 ϩ0 -16 ϩ6 weeks (P Ͻ .001).…”

Beta-catenin Mediates Soft Tissue Contracture in Clubfoot

“…Although a genetic cause is suggested, because it tends to run in families [27], data from early amniocentesis suggest oligohydramnios as a cause [35]. In either case, osseous deformities [39], muscle abnormalities [19,22,45], and arrested fetal development [18] are all hypothesized to play a role in its pathogenesis.…”

Strategie nel trattamento conservativo del piede torto congenito

“…Esso è talvolta associato a patologie neurologiche quali il mielomeningocele e l'artrogriposi, ma più spesso si presenta come anomalia congenita isolata idiopatica [3]. Tra le cause scatenanti sembrano rivestire maggiore importanza fattori genetici (il 25% dei casi è familiare) [4] e anomalie della gestazione come l'oligoidramnios, la formazione di briglie amniotiche e la macrosomia fetale [5]. Diverse varianti genetiche sono state associate allo sviluppo del piede torto: un recentissimo lavoro ha dimostrato la presenza di una mutazione "missense" del gene per il fattore di trascrizione PITX1-TBX4 in una famiglia i cui membri erano affetti da PTC da 3 generazioni.…”