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先天性脊柱侧凸的病因:遗传因素与环境因素——三例单卵双胞胎病例报告

The etiology of congenital scoliosis: genetic vs. environmental-a report of three monozygotic twin cases.

作者信息

Cho Woojin, Shepard Nicholas, Arlet Vincent

机构信息

Department of Orthopaedic Surgery, Albert Einstein College of Medicine/Montefiore Medical Center, 3400 Bainbridge Ave 6th Floor, Bronx, NY, 10461, USA.

NYU Langone Orthopedic Hospital, New York, NY, USA.

出版信息

Eur Spine J. 2018 Jul;27(Suppl 3):533-537. doi: 10.1007/s00586-018-5604-2. Epub 2018 Apr 18.

Abstract

PURPOSE

To describe the presence of congenital scoliosis in a genetically identical population as it relates to the possible genetic vs. environmental etiologic factors.

METHODS

The authors describe three cases of congenital scoliosis in monozygotic twins. The first pair includes two 4-year-old girls presenting with mirror curves, one of whom had an associated stage I Chiari malformation. The second pair is a 4-year-old girl who presented with thoracic scoliosis, a T10-11 hemivertebra, and multilevel failure of segmentation in the lumbar spine whose identical sibling is unaffected. The third pair includes a 4-month-old boy with T9 and L4 hemivertebra whose brother is also unaffected.

RESULTS

All three cases were managed conservatively with observation and remained asymptomatic throughout the duration of follow-up. There were no associations with extraspinal deformities, although one patient presented with concomitant type I Chiari malformation.

CONCLUSION

The variable presentation of congenital scoliosis in a genetically unique population serves as testament to the complexity associated with its development, likely involving both environmental factors and a genetic predisposition.

摘要

目的

描述在基因相同的人群中先天性脊柱侧凸的存在情况,及其与可能的遗传和环境病因因素的关系。

方法

作者描述了三例单卵双胞胎先天性脊柱侧凸病例。第一对是两个4岁女孩,呈现镜像曲线,其中一人伴有I期Chiari畸形。第二对是一个4岁女孩,患有胸段脊柱侧凸、T10 - 11半椎体以及腰椎多节段分节不全,其同卵双胞胎未受影响。第三对包括一个4个月大的男孩,患有T9和L4半椎体,其兄弟也未受影响。

结果

所有三例均采用观察保守治疗,在整个随访期间均无症状。尽管有一名患者伴有I型Chiari畸形,但均与脊柱外畸形无关。

结论

在基因独特的人群中先天性脊柱侧凸的表现各异,证明了其发展过程的复杂性,可能涉及环境因素和遗传易感性。

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