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 twin cases

Woojin Cho, Nicholas Shepard, Vincent Arlet

April 2018, pp 1 - 5
DOI
10.1007/s00586-018-5604-2
First Online: 18 April 2018
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.