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Four-generation postaxial polydactyly in a Chinese family 被引量:1
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作者 XU Feng XIA Jing-yan XU Jian-guo 《Chinese Medical Journal》 SCIE CAS CSCD 2007年第11期1027-1028,共2页
Polydactyly, one of the fairly common congenital deformities of the hands and/or feet, occurs as an isolated disorder or as part of a syndrome. It is not only observed sporadically, but also inherited with a mainly au... Polydactyly, one of the fairly common congenital deformities of the hands and/or feet, occurs as an isolated disorder or as part of a syndrome. It is not only observed sporadically, but also inherited with a mainly autosomal dominant inheritance. However, postaxial polydactyly in both hands and feet with 24 digits in total was rarely reported in China. 展开更多
关键词 postaxial polydactyly CHINESE FAMILY
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Polydactyly:Clinical and molecular manifestations 被引量:4
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作者 Zisis Kyriazis Panagoula Kollia +3 位作者 Ioanna Grivea Nikolaos Stefanou Sotirios Sotiriou Zoe H Dailiana 《World Journal of Orthopedics》 2023年第1期13-22,共10页
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 h... 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. 展开更多
关键词 POLYDACTYLY GENE SYNDROMIC NON-SYNDROMIC Preaxial postaxial
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