Clinical, genetic and environmental factors associated with congenital vertebral malformations Academic Article uri icon


MeSH Major

  • Acetabulum
  • Femoral Neck Fractures
  • Hip Dislocation
  • Osteogenesis Imperfecta


  • 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.

publication date

  • February 2013



  • Academic Article



  • eng

PubMed Central ID

  • PMC3638777

Digital Object Identifier (DOI)

  • 10.1159/000345329

PubMed ID

  • 23653580

Additional Document Info

start page

  • 94

end page

  • 105


  • 4


  • 1-2