Kołecka Ewa, Niedzielski Kryspin Ryszard, Cukras Zbigniew, Piotrowicz Małgorzata
Klinika Ortopedii i Traumatologii z Pododdziałem Chirurgii Reki dla Dzieci, Instytut Centrum Zdrowia Matki Polki w Łodzi.
Chir Narzadow Ruchu Ortop Pol. 2011 Sep-Oct;76(5):252-5.
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.
尽管先天性马蹄内翻足（CTEV）是运动器官最常见的先天性缺陷之一，但其病因发病机制仍不完全清楚。其中，该缺陷的遗传模式尚未完全明确，这限制了基因治疗和新治疗技术的发展。本研究的目的是分析1998年至2008年在我们中心接受治疗的205例CTEV患儿（298只脚）的家系。在16例（占分析组的8%）中发现了CTEV的家族性发病。对6个连续几代出现CTEV的家系进行了详细分析。特别有趣的是家族1的家系，该缺陷在连续三代中出现。就该家族而言，可能存在常染色体显性遗传模式。此前，CTEV的这种遗传模式仅在波利尼西亚人的孤立人群中有所描述。在我们自己的资料中，发现CTEV的家族性发病比文献报道的要少。该缺陷在男孩中的发生频率是女孩的两倍，而严重形式在女孩中更常见，这与现有文献中的数据一致。对所呈现的CTEV家族家系的分析未能明确确定该缺陷的遗传模式。为了证实连续三代出现该缺陷的家族中CTEV的常染色体显性遗传模式，有必要进行基因检测。
