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

The etiology of congenital scoliosis: genetic vs. environmental—a report of three monozygotic... 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 Introduction remains unclear despite ongoing investigation [3]. Monozy- gotic twins, though poorly represented in the literature, may Congenital scoliosis (CS) is a http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png European Spine Journal Springer Journals

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

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References (28)

Publisher
Springer Journals
Copyright
Copyright © 2018 by Springer-Verlag GmbH Germany, part of Springer Nature
Subject
Medicine & Public Health; Surgical Orthopedics; Neurosurgery
ISSN
0940-6719
eISSN
1432-0932
DOI
10.1007/s00586-018-5604-2
Publisher site
See Article on Publisher Site

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 Introduction remains unclear despite ongoing investigation [3]. Monozy- gotic twins, though poorly represented in the literature, may Congenital scoliosis (CS) is a

Journal

European Spine JournalSpringer Journals

Published: Apr 18, 2018

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