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Polydactyly:Clinical and molecular manifestations

World Journal of Orthopedics 2023年第1期14卷 13-22页

作者： Zisis Kyriazis Panagoula Kollia Ioanna Grivea Nikolaos Stefanou Sotirios Sotiriou Zoe H Dailiana Department of Orthopaedic Surgery Faculty of MedicineSchool of Health SciencesUniversity of ThessalyLarissa 41500Greece Department of Genetics and Biotechnology Faculty of BiologyUniversity of AthensAthens 15701Greece Department of Paediatrics Faculty of MedicineSchool of Health SciencesUniversity of ThessalyLarissa 41500Greece Laboratory of Histology and Embryology Faculty of MedicineSchool of Health SciencesUniversity of ThessalyLarissa 41500Greece

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 *** is considered to be one of the most common inherited hand *** can be divided into two major groups:Non-syndromic polydactyly or syndromic *** to the anatomical location of the duplicated digits,polydactyly can be generally subdivided into pre-,post-axial,and mesoaxial ***-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 *** are several forms of polydactyly,including hand and foot extra digit *** deformity affects upper limbs with a higher frequency than the lower,and the left foot is more often involved than the *** treatment is always *** the clinical presentation is highly diverse,the treatment combines single or multiple surgical operations,depending on the type of *** research attention that congenital limb deformities have recently attracted has resulted in broadening the list of isolated gene mutations associated with the *** 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

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