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Erschienen in: European Spine Journal 3/2018

18.04.2018 | Case Report

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

verfasst von: Woojin Cho, Nicholas Shepard, Vincent Arlet

Erschienen in: European Spine Journal | Sonderheft 3/2018

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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.
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Metadaten
Titel
The etiology of congenital scoliosis: genetic vs. environmental—a report of three monozygotic twin cases
verfasst von
Woojin Cho
Nicholas Shepard
Vincent Arlet
Publikationsdatum
18.04.2018
Verlag
Springer Berlin Heidelberg
Erschienen in
European Spine Journal / Ausgabe Sonderheft 3/2018
Print ISSN: 0940-6719
Elektronische ISSN: 1432-0932
DOI
https://doi.org/10.1007/s00586-018-5604-2

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