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单卵双胞胎中的先天性脊柱侧凸。是由基因决定的还是在子宫内获得的?

Congenital scoliosis in monozygotic twins. Genetically determined or acquired in utero?

作者信息

Pool R D

出版信息

J Bone Joint Surg Br. 1986 Mar;68(2):194-6. doi: 10.1302/0301-620X.68B2.3958001.

Abstract

The term "congenital scoliosis" contributes little to our understanding of aetiology, for "congenital" simply means "to be born with" and is applicable to deformities present at birth whether these are genetically determined or acquired in utero. The presentation of monozygotic twins, one of whom has congenital scoliosis (vertebral anomalies) while the other is normal, provides a rare opportunity to study the cause of this deformity. Three pairs of monozygotic twins, previously unreported, are presented with a review of the previous literature. These cases add weight to the argument that congenital scoliosis may be acquired in utero rather than being genetically determined.

摘要

“先天性脊柱侧凸”这一术语对我们理解病因帮助不大,因为“先天性”仅仅意味着“与生俱来”,适用于出生时就存在的畸形,无论这些畸形是由基因决定的还是在子宫内获得的。单卵双胞胎的情况,其中一个患有先天性脊柱侧凸(椎体异常)而另一个正常,为研究这种畸形的病因提供了难得的机会。本文介绍了三对之前未报道过的单卵双胞胎,并对以往文献进行了综述。这些病例进一步支持了先天性脊柱侧凸可能是在子宫内获得而非由基因决定的观点。

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