Lochmiller C, Johnston D, Scott A, Risman M, Hecht J T
Children's Medical Center of Dallas, Texas, USA.
Am J Med Genet. 1998 Sep 1;79(2):90-6.
Previous genetic studies of idiopathic talipes equinovarus (ITEV) suggest an environmental and genetic component to the etiology of ITEV. The present study was undertaken to assess the role of causal factors in the development of ITEV. A total of 285 propositi were ascertained, with detailed family history information available in 173 cases and medical records on the remaining 112 propositi. Information was collected on specific prenatal, parental, and demographic factors. No racial heterogeneity was noted among any of the factors. The overall ratio of affected males to females was 2.5:1. The incidence of twinning among all propositi was significantly increased (P=0.006) above the expected population frequency. A family history of ITEV was noted in 24.4% of all propositi studied. These findings, in addition to the detailed analysis of 53 pedigrees with ITEV history, suggest the potential role of a gene or genes operating in high-risk families to produce this foot deformity.
以往关于特发性马蹄内翻足(ITEV)的遗传学研究表明,ITEV的病因涉及环境和遗传因素。本研究旨在评估致病因素在ITEV发病过程中的作用。共确定了285名先证者,其中173例有详细的家族史信息,其余112例有病历记录。收集了有关特定产前、父母及人口统计学因素的信息。在任何因素中均未发现种族异质性。受累男性与女性的总体比例为2.5:1。所有先证者中双胎妊娠的发生率显著高于预期人群频率(P = 0.006)。在所有研究的先证者中,24.4%有ITEV家族史。这些发现,再加上对53个有ITEV病史家系的详细分析,提示在高危家族中起作用的一个或多个基因可能导致这种足部畸形。