蜘蛛样指
蜘蛛样指（英语：Arachnodactyly）是一种手指和脚趾异常细长的先天性或后天性疾病，而患者的拇指倾向手掌[1]。目前已经发现小纤维蛋白-1（fibrillin-1、FBN1）和小纤维蛋白-2（FBN2）的突变，与蜘蛛样指相关。此外，蜘蛛样指被指可能与高胱氨酸尿症、先天性挛缩细长指、Loeys-Dietz综合征、马凡氏症候群[2]和埃勒斯-当洛二氏症候群[3] 有关。
参考资料
- ^ 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.
- ^ 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.
- ^ Keer, Rosemary; Grahame, Rodney. Hypermobility syndrome: Recognition and management for physiotherapists. 2003-06-27. ISBN 978-0-7506-5390-9.