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匈牙利早期骨科筛查后先天性髋关节脱位的两项家族研究。

Two family studies on congenital dislocation of the hip after early orthopaedic screening Hungary.

作者信息

Czeizel A, Szentpétery J, Tusnády G, Vizkelety T

出版信息

J Med Genet. 1975 Jun;12(2):125-30. doi: 10.1136/jmg.12.2.125.

Abstract

Two family studies involving 1767 and 379 index patients in Budapest and Bekes county, respectively, were undertaken to examine the effect of early orthopaedic screening on the recurrence risk of congenital dislocation of the hip. About 14%, 2.1-2.3%,1.2-1.4%, and 4.7-6% of sibs, parents, uncles and aunts, and cousins, respectively, had congenital dislocation of the hip in these two surveys. The recurrence risks were eight-fold and four-fold higher in brothers and sisters, four times higher in parents, 2.5-fold higher in uncles and aunts, and 2.0-2.5 times higher in cousins, respectively, than in the general population. This family pattern seems to fit best with a model of polygenic-multifactorial inheritance. In earlier studies higher recurrence risks were found. These may be explained by the change of diagnosis due to early orthopaedic screening which may increase the possibility of over diagnosis and the treatment of mild cases which previously recovered spontaneously.

摘要

两项家族研究分别在布达佩斯和贝凯什州进行,涉及1767名和379名索引患者,旨在研究早期骨科筛查对先天性髋关节脱位复发风险的影响。在这两项调查中,分别约有14%的兄弟姐妹、2.1 - 2.3%的父母、1.2 - 1.4%的叔叔阿姨和4.7 - 6%的表亲患有先天性髋关节脱位。与一般人群相比,兄弟姐妹的复发风险高出八倍和四倍,父母高出四倍,叔叔阿姨高出2.5倍,表亲高出2.0 - 2.5倍。这种家族模式似乎最符合多基因 - 多因素遗传模型。在早期研究中发现了更高的复发风险。这些可能是由于早期骨科筛查导致诊断改变,这可能增加过度诊断的可能性以及对以前自发恢复的轻度病例进行治疗。

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Acta Genet Stat Med. 1960;10:63-70. doi: 10.1159/000151119.
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