| Popis: |
Although congenital talipes equinovarus (CTEV) is one of the most frequently occurring congenital defects of locomotor organs, its ethiopathogenesis is still not fully known. Amongst the others, the inheritance patterns of that defect are not fully known, and that restricts genetic therapeutics and development of new treatment technologies. The aim of this study was analysis of family lineages of 205 children with CTEV (298 feet) treated at our centre in the years 1998-2008. The family occurrence of CTEV was found in 16 cases (8% of analysed group). 6 lineages, in which CTEV occurred in successive generations, were analysed in detail. Particularly interesting is the lineage of the family 1, in which the defect occurred in three successive generations. In case of that family, an autosomal dominant inheritance pattern is possible. Previously that pattern of CTEV inheritance was described only for isolated populations of Polynesians. In own material the family occurrence of CTEV was found to be less frequent than in bibliographic references. The defect occurred twice as often in boys, while the severe form was more frequently observed in girls, and that is consisted with data in the available bibliography. The analysis of presented lineages of families with CTEV did not allow unambiguous defining of the inheritance pattern for that defect. To confirm the autosomal dominant pattern of CTEV inheritance in the family in which the defect occurred in three successive generations, genetic tests would be necessary. |
