Author:
Jordan D,Hindocha S,Dhital M,Saleh M,Khan W
Abstract
Syndactyly is a condition well documented in current literature due to it being the most common congenital hand defect, with a large aesthetic and functional significance.There are currently nine types of phenotypically diverse non-syndromic syndactyly, an increase since the original classification by Temtamy and McKusick(1978). Non-syndromic syndactyly is inherited as an autosomal dominant trait, although the more severe presenting types and sub types appear to have autosomal recessive and in some cases X-linked hereditary.Gene research has found that these phenotypes appear to not only be one gene specific, although having individual localised loci, but dependant on a wide range of genes and subsequent signalling pathways involved in limb formation. The principal genes so far defined to be involved in congenital syndactyly concern mainly the Zone of Polarizing Activity and Shh pathway.Research into the individual phenotypes appears to complicate classification as new genes are found both linked, and not linked, to each malformation. Consequently anatomical, phenotypical and genotypical classifications can be used, but are variable in significance, depending on the audience.Currently, management is surgical, with a technique unchanged for several decades, although future development will hopefully bring alternatives in both earlier diagnosis and gene manipulation for therapy.
Publisher
Bentham Science Publishers Ltd.
Reference152 articles.
1. Canale ST, Beaty JH, Eds. Campbell’s operative orthopaedics. 11th ed. Philadelphia Mosby: Elsevier 2008; vol 4: pp. 4403-.
2. Green DP, Hotchkiss RN, Pederson WC, Wolfe SW. Green’s operative hand surgery. 5th ed. Philadelphia PA: Elsevier 2005; vol 2: pp. 1381-2.
3. Burke FD, McGrouther DA, Smith PJ. Principles of hand surgery 1989; vol. 15 : 256.
4. Eaton CJ, Lister GD. Syndactyly Hand Clin 1990; 6 (4 ) : 555.
5. Kozin SH. Syndactyly J Hand Surg Am 2001; vol. 1 : 1.
Cited by
55 articles.
订阅此论文施引文献
订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献