Clinical, Genetic and Environmental Factors Associated with Congenital Vertebral Malformations
Open Access
- 15 November 2012
- journal article
- Published by S. Karger AG in Molecular Syndromology
- Vol. 4 (1-2), 94-105
- https://doi.org/10.1159/000345329
Abstract
Congenital vertebral malformations (CVM) pose a significant health problem because they can be associated with spinal deformities, such as congenital scoliosis and kyphosis, in addition to various syndromes and other congenital malformations. Additional information remains to be learned regarding the natural history of congenital scoliosis and related health problems. Although significant progress has been made in understanding the process of somite formation, which gives rise to vertebral bodies, there is a wide gap in our understanding of how genetic factors contribute to CVM development. Maternal diabetes during pregnancy most commonly contributes to the occurrence of CVM, followed by other factors such as hypoxia and anticonvulsant medications. This review highlights several emerging clinical issues related to CVM, including pulmonary and orthopedic outcome in congenital scoliosis. Recent breakthroughs in genetics related to gene and environment interactions associated with CVM development are discussed. The Klippel-Feil syndrome which is associated with cervical segmentation abnormalities is illustrated as an example in which animal models, such as the zebrafish, can be utilized to provide functional evidence of pathogenicity of identified mutations.Keywords
This publication has 75 references indexed in Scilit:
- Role of Chd7 in Zebrafish: A Model for CHARGE SyndromePLOS ONE, 2012
- Human Genome Sequencing in Health and DiseaseAnnual Review of Medicine, 2012
- Wildervanck’s syndrome and mirror movements: a congenital disorder of axon migration?Zeitschrift für Neurologie, 2011
- Chd7 plays a critical role in controlling left–right symmetry during zebrafish somitogenesisDevelopmental Dynamics, 2011
- Two novel missense mutations in HAIRY-AND-ENHANCER-OF-SPLIT-7 in a family with spondylocostal dysostosisEuropean Journal of Human Genetics, 2010
- Congenital scoliosis in monozygotic twins: case report and review of possible factors contributing to its developmentScoliosis and Spinal Disorders, 2008
- Mutations in the MESP2 Gene Cause Spondylothoracic Dysostosis/Jarcho-Levin SyndromeAmerican Journal of Human Genetics, 2008
- Lack of evidence of WNT3A as a candidate gene for congenital vertebral malformationsScoliosis and Spinal Disorders, 2007
- Retinoic Acid EmbryopathyThe New England Journal of Medicine, 1985
- A clock and wavefront model for control of the number of repeated structures during animal morphogenesisJournal of Theoretical Biology, 1976