Polydactyly:Clinical and molecular manifestations  

作　　者：Zisis Kyriazis Panagoula Kollia Ioanna Grivea Nikolaos Stefanou Sotirios Sotiriou Zoe H Dailiana 

机构地区：[1]Department of Orthopaedic Surgery,Faculty of Medicine,School of Health Sciences,University of Thessaly,Larissa 41500,Greece [2]Department of Genetics and Biotechnology,Faculty of Biology,University of Athens,Athens 15701,Greece [3]Department of Paediatrics,Faculty of Medicine,School of Health Sciences,University of Thessaly,Larissa 41500,Greece [4]Laboratory of Histology and Embryology,Faculty of Medicine,School of Health Sciences,University of Thessaly,Larissa 41500,Greece

出　　处：《World Journal of Orthopedics》2023年第1期13-22,共10页世界骨科杂志（英文版）

摘　　要：Polydactyly is a malformation during the development of the human limb,which is characterized by the presence of more than the normal number of fingers or toes.It is considered to be one of the most common inherited hand disorders.It can be divided into two major groups:Non-syndromic polydactyly or syndromic polydactyly.According to the anatomical location of the duplicated digits,polydactyly can be generally subdivided into pre-,post-axial,and mesoaxial forms.Non-syndromic polydactyly is often inherited with an autosomal dominant trait and defects during the procedure of anterior-posterior patterning of limb development are incriminated for the final phenotype of the malformation.There are several forms of polydactyly,including hand and foot extra digit manifestations.The deformity affects upper limbs with a higher frequency than the lower,and the left foot is more often involved than the right.The treatment is always surgical.Since the clinical presentation is highly diverse,the treatment combines single or multiple surgical operations,depending on the type of polydactyly.The research attention that congenital limb deformities have recently attracted has resulted in broadening the list of isolated gene mutations associated with the disorders.Next generation sequencing technologies have contributed to the correlation of phenotype and genetic profile of the multiple polydactyly manifestations and have helped in early diagnosis and screening of most nonsyndromic and syndromic disorders.

关 键 词：POLYDACTYLY Gene SYNDROMIC NON-SYNDROMIC Preaxial Postaxial 

分 类 号：R68[医药卫生—骨科学]