Tészás Alexandra, Renner Antal, Melegh Béla, Kosztolányi György
Pécsi Tudományegyetem, Altalános Orvostudományi Kar, Orvosi Genetikai és Gyermek-fejlodéstani Intézet, Pécs.
Orv Hetil. 2008 Jun 22;149(25):1167-9. doi: 10.1556/OH.2008.28305.
Limb developmental defects are well-known, conspicuous abnormalities. Until this day, the background has still not been completely revealed, however, the development of scientific methods provides more and more opportunities which may help to understand developmental processes and defects of this compound system. Considering these aspects, following data collection from patients with limb developmental defects, we began a study with the purpose of finding/establishing a classification system that is suitable for morphological and clinical distinctions, besides considering developmental aspects, and may help to indicate adequate genetic examinations. To classify 195 patients included in our database, we chose a worldwide accepted table from Swanson. Based upon our observations we proposed some alterations, which finally lead to a table, suitable for patient classification based upon morphology and clinical features. Furthermore it allows comparisons concerning developmental aspects, gives reasonable background for genetic studies and is suitable for everyday clinical usage.
肢体发育缺陷是众所周知的明显异常。然而，直到如今，其背后的原因仍未完全明了，不过，科学方法的发展提供了越来越多的机会，有助于理解这个复合系统的发育过程和缺陷。考虑到这些方面，在收集了肢体发育缺陷患者的数据后，我们开展了一项研究，目的是找到/建立一个除考虑发育方面外，还适用于形态学和临床区分的分类系统，并有助于指明适当的基因检测。为了对我们数据库中的195名患者进行分类，我们选用了斯旺森的一张被全球认可的表格。基于我们的观察，我们提出了一些改动，最终形成了一张适合根据形态学和临床特征对患者进行分类的表格。此外，它还能进行发育方面的比较，为基因研究提供合理依据，且适用于日常临床应用。
