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

Case Report

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.

Keywords

Congenital scoliosis Monozygotic twins Chiari malformation Hemivertebra 

Notes

Compliance with ethical standards

Conflict of interest

None of the authors has any potential conflict of interest.

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Copyright information

© Springer-Verlag GmbH Germany, part of Springer Nature 2018

Authors and Affiliations

  1. 1.Department of Orthopaedic SurgeryAlbert Einstein College of Medicine/Montefiore Medical CenterBronxUSA
  2. 2.NYU Langone Orthopedic HospitalNew YorkUSA
  3. 3.Department of Orthopaedic SurgeryPennsylvania HospitalPhiladelphiaUSA

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