Potuijt Jacob W P, Galjaard Robert-Jan H, van der Spek Peter J, van Nieuwenhoven Christianne A, Ahituv Nadav, Oberg Kerby C, Hovius Steven E R
1 Department of Plastic and Reconstructive Surgery and Hand Surgery, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands.
2 Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands.
J Hand Surg Eur Vol. 2019 Jan;44(1):59-68. doi: 10.1177/1753193418803521. Epub 2018 Oct 14.
Despite being a rare congenital limb anomaly, triphalangeal thumb is a subject of research in various scientific fields, providing new insights in clinical research and evolutionary biology. The findings of triphalangeal thumb can be predictive for other congenital anomalies as part of an underlying syndrome. Furthermore, triphalangeal thumb is still being used as a model in molecular genetics to study gene regulation by long-range regulatory elements. We present a review that summarizes a number of scientifically relevant topics that involve the triphalangeal thumb phenotype. Future initiatives involving multidisciplinary teams collaborating in the field of triphalangeal thumb research can lead to a better understanding of the pathogenesis and molecular mechanisms of this condition as well as other congenital upper limb anomalies.
尽管三节拇指是一种罕见的先天性肢体异常，但它仍是各个科学领域的研究对象，为临床研究和进化生物学提供了新的见解。三节拇指的发现可作为潜在综合征的一部分，对其他先天性异常具有预测性。此外，三节拇指仍被用作分子遗传学中的模型，以研究长程调控元件对基因的调控。我们发表了一篇综述，总结了一些与三节拇指表型相关的科学主题。未来，涉及三节拇指研究领域多学科团队合作的项目，可能会使我们更好地理解这种病症以及其他先天性上肢异常的发病机制和分子机制。
