【先天性马蹄内翻——家族发生】。

Ewa Kołecka, Kryspin Ryszard Niedzielski, Zbigniew Cukras, Małgorzata Piotrowicz
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引用次数: 0

摘要

虽然先天性马蹄足(CTEV)是最常见的运动器官先天性缺陷之一,但其病因尚不完全清楚。其中,该缺陷的遗传模式尚不完全清楚,这限制了遗传治疗和新治疗技术的发展。本研究的目的是分析1998-2008年间在本中心治疗的205例CTEV(298英尺)患儿的家族谱系。CTEV家族发生16例(占分析组的8%)。对6个连续世代发生CTEV的世系进行了详细分析。特别有趣的是这个家庭的血统,这个缺陷连续三代发生。在这种情况下,常染色体显性遗传模式是可能的。以前,这种CTEV遗传模式仅在孤立的波利尼西亚人群中被描述过。在本文献中,发现CTEV的家族发生率低于文献参考文献。这种缺陷在男孩中发生的频率是男孩的两倍,而在女孩中更常见的是严重的形式,这是与现有文献中的数据相一致的。对CTEV家族谱系的分析不允许对该缺陷的遗传模式进行明确的定义。在连续三代发生CTEV缺陷的家庭中,为了确认CTEV遗传的常染色体显性模式,基因检测是必要的。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
[Congenital talipes equinovarus--family occurrence].

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.

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