Abstract:
Polydactyly is typically observed as isolated and sporadic occurrences, although familial cases do exist, albeit with lower frequency, manifesting in various inheritance patterns. In around 30% of polydactyly cases, there exists a familial history, suggesting the probable involvement of a single gene. Given its potential for hereditary transmission, thorough investigation of the patients\' parents, first-degree relatives, grandparents, and even great-grandparents for similar disorders becomes imperative. In our clinic, we conducted an analysis focusing on patients presenting with foot polydactyly, along with occurrences of polydactyly among their first- and second-degree relatives spanning two to three generations of family history. The study encompassed three patients and their respective families, including a pair of siblings. We speculate that the inheritance type in our cases was autosomal dominant. Among our patients, one presented with central polydactyly, while the remaining patients and all familial cases displayed postaxial polydactyly. In terms of morphologic classification, one patient had a Y-shaped metatarsal, another had a T-shaped metatarsal, and the third patient exhibited a duplicated ray-shaped anomaly. In our review of the literature, we haven\'t come across a case spanning three generations like the ones we encountered. Additionally, the presence of a transverse accessory extensor tendon between both extensor tendons in cases with T- and Y-shaped metatarsals intrigued us from an anatomical perspective. Our goal is to present these rare cases of congenital familial polydactyly spanning three generations, highlighting the anatomical variations observed and aiming to contribute to the existing body of literature on the subject.
摘要:
多指通常被观察为孤立和零星的事件,虽然家族性病例确实存在,尽管频率较低,表现为各种继承模式。在大约30%的多指病例中,有家族史,提示可能与单个基因有关.鉴于其遗传传播的可能性,彻底调查患者的父母,一级亲属,祖父母,甚至曾祖父母对类似的疾病也变得势在必行。在我们的诊所里,我们对足部多指的患者进行了分析,伴随着他们的一级和二级亲属中多指的发生,他们跨越两到三代的家族史。该研究包括三名患者及其各自的家人,包括一对兄弟姐妹.我们推测我们病例的遗传类型为常染色体显性遗传。在我们的病人中,一个带有中央多指,而其余患者和所有家族性病例均显示后轴多指。在形态学分类方面,一名患者患有Y形跖骨,另一个有一个T形的meta骨,第三名患者表现出重复的射线形异常。在我们的文献综述中,我们还没有遇到过像我们遇到的三代人一样的案例。此外,在T形和Y形meta骨的情况下,在两个伸肌腱之间存在横向辅助伸肌腱,这从解剖学角度引起了我们的兴趣。我们的目标是呈现这些罕见的先天性家族性多指病例,跨越三代,突出观察到的解剖变化,旨在为该主题的现有文献做出贡献。