Engell V, Damborg F, Andersen M, Kyvik K O, Thomsen K
Department of Orthopaedic Surgery, University Hospital of Odense, SDR Boulevard 29, DK-5000 Odense C, Denmark.
J Bone Joint Surg Br. 2006 Mar;88(3):374-6. doi: 10.1302/0301-620X.88B3.16685.
The aetiology of congenital club foot is unclear. Although studies on populations, families and twins suggest a genetic component, the mode of inheritance does not comply with distinctive patterns. The Odense-based Danish Twin Registry contains data on all 73,000 twin pairs born in Denmark over the last 130 years. In 2002 all 46 418 twins born between 1931 and 1982 received a 17-page questionnaire, one question of which was 'Were you born with club foot?' A total of 94 twins answered 'Yes', giving an overall self-reported prevalence of congenital club foot of 0.0027 (95% confidence interval (CI) 0.0022 to 0.0034). We identified 55 complete twin pairs, representing 12 monozygotic, 22 dizygotic same sex (DZss), 18 dizygotic other sex (DZos) and three unclassified. Two monozygotic and 2 DZss pairs were concordant. The pairwise concordance was 0.17 (95% CI 0.02 to 0.48) for monozygotic, 0.09 (95% CI 0.01 to 0.32) for DZss and 0.05 (95% CI 0.006 to 0.18) for all dizygotic (DZtot) twins. We have found evidence of a genetic component in congenital club foot, although non-genetic factors must play a predominant role.
先天性马蹄内翻足的病因尚不清楚。尽管对人群、家族和双胞胎的研究表明存在遗传因素,但遗传模式并不符合典型特征。位于欧登塞的丹麦双胞胎登记处包含了过去130年在丹麦出生的所有73000对双胞胎的数据。2002年,所有在1931年至1982年出生的46418对双胞胎收到了一份17页的问卷,其中一个问题是“你出生时患有马蹄内翻足吗?”共有94对双胞胎回答“是”,先天性马蹄内翻足的自我报告总体患病率为0.0027(95%置信区间(CI)为0.0022至0.0034)。我们识别出55对完整的双胞胎,其中包括12对同卵双胞胎、22对同性异卵双胞胎(DZss)、18对异性异卵双胞胎(DZos)和3对未分类的双胞胎。2对同卵双胞胎和2对DZss双胞胎是一致的。同卵双胞胎的成对一致性为0.17(95%CI为0.02至0.48),DZss双胞胎为0.09(95%CI为0.01至0.32),所有异卵双胞胎(DZtot)为0.05(95%CI为0.006至0.