Abstract

BackgroundThumb duplication is a very common congenital malformation. This study describes and compares the phenotypic manifestations of polydactyly between southwest and northeast China. However, previous studies had a limited sample size. Therefore, this study used a large sample.MethodsA total of 3549 well-characterized thumb duplication cases were divided into group A (southwest China) and group B (northeast China).ResultsIn group A and group B, the left-to-right ratio was 1:1.5 and 1:1.75, respectively, and the female-to-male ratio was 1:1.5 and 1:1.58, respectively.ConclusionsThere were no significant differences in gender distribution or the distribution of left and right polydactyly between the two groups, but the distribution of bilateral polydactyly was significantly different.

Highlights

  • Thumb duplication is a very common congenital malformation

  • Abnormal expression of morphogens, such as Hox genes, bone morphogenic proteins, LMBR1, Gli-3, and increased duplication of ZRS region has been associated with thumb duplication [2,3,4,5].The Wassel system, which was developed in 1969, has become the

  • The group with thumb duplication recruited from the hospital in southwestern China was designated as group A, and the group with thumb duplication recruited from the hospital in northeastern China was designated as group B

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Summary

Introduction

Preaxial polydactyly is the most common duplication in Caucasian and Asian populations, and it occurs in 0.8– 1.4 cases per 1000 births [1]. There is no large sample study of polydactyly in northeast and southwest China. There are differences in climate, topography, ethnicity, economic level, diet, and medical level in northeast and southwest China. Thumb duplication is a very common congenital malformation. This study describes and compares the phenotypic manifestations of polydactyly between southwest and northeast China. Methods: A total of 3549 well-characterized thumb duplication cases were divided into group A (southwest China) and group B (northeast China). Results: In group A and group B, the left-to-right ratio was 1:1.5 and 1:1.75, respectively, and the female-to-male ratio was 1:1.5 and 1:1.58, respectively. Conclusions: There were no significant differences in gender distribution or the distribution of left and right polydactyly between the two groups, but the distribution of bilateral polydactyly was significantly different

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