蜘蛛樣指

蜘蛛樣指(英語:Arachnodactyly)是一種手指腳趾異常細長的先天性或後天性疾病,而患者的拇指傾向手掌[1]。目前已經發現小纖維蛋白-1(fibrillin-1、FBN1)和小纖維蛋白-2(FBN2)的突變,與蜘蛛樣指相關。此外,蜘蛛樣指被指可能與高胱氨酸尿症先天性攣縮細長指、Loeys-Dietz綜合徵、馬凡氏症候群[2]埃勒斯-當洛二氏症候群[3] 有關。

參考資料

  1. ^ Viljoen, D. Congenital contractural arachnodactyly (Beals syndrome).. Journal of medical genetics. 1994-08, 31 (8): 640–3 [2020-03-08]. PMID 7815423. doi:10.1136/jmg.31.8.640. 
  2. ^ Buntinx, IM; Willems, PJ; Spitaels, SE; Van Reempst, PJ; De Paepe, AM; Dumon, JE. Neonatal Marfan syndrome with congenital arachnodactyly, flexion contractures, and severe cardiac valve insufficiency.. Journal of medical genetics. 1991-04, 28 (4): 267–73 [2020-03-08]. PMID 1856834. doi:10.1136/jmg.28.4.267. 
  3. ^ Keer, Rosemary; Grahame, Rodney. Hypermobility syndrome: Recognition and management for physiotherapists. 2003-06-27. ISBN 978-0-7506-5390-9.