Woojin Cho1, Nicholas Shepard2, Vincent Arlet3. 1. Department of Orthopaedic Surgery, Albert Einstein College of Medicine/Montefiore Medical Center, 3400 Bainbridge Ave 6th Floor, Bronx, NY, 10461, USA. wcho@montefiore.org. 2. NYU Langone Orthopedic Hospital, New York, NY, USA. 3. Department of Orthopaedic Surgery, Pennsylvania Hospital, Philadelphia, PA, USA.
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.
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.
Authors: F A Farley; R T Loder; B T Nolan; M T Dillon; E P Frankenburg; N A Kaciroti; J D Miller; S A Goldstein; R N Hensinger Journal: J Pediatr Orthop Date: 2001 Jul-Aug Impact factor: 2.324
Authors: Duncan B Sparrow; Gavin Chapman; Allanceson J Smith; Muhammad Z Mattar; Joelene A Major; Victoria C O'Reilly; Yumiko Saga; Elaine H Zackai; John P Dormans; Benjamin A Alman; Lesley McGregor; Ryoichiro Kageyama; Kenro Kusumi; Sally L Dunwoodie Journal: Cell Date: 2012-04-05 Impact factor: 41.582
Authors: Nathalie Wéry; Michael G Narotsky; Nathalie Pacico; Robert J Kavlock; Jacques J Picard; Françoise Gofflot Journal: Birth Defects Res A Clin Mol Teratol Date: 2003-01