Progress in the understanding of the genetic etiology of vertebral segmentation disorders in humans.

Journal Article (Journal Article;Review)

Vertebral malformations contribute substantially to the pathophysiology of kyphosis and scoliosis, common health problems associated with back and neck pain, disability, cosmetic disfigurement, and functional distress. This review explores (1) recent advances in the understanding of the molecular embryology underlying vertebral development and relevance to elucidation of etiologies of several known human vertebral malformation syndromes; (2) outcomes of molecular studies elucidating genetic contributions to congenital and sporadic vertebral malformation; and (3) complex interrelationships between genetic and environmental factors that contribute to the pathogenesis of isolated syndromic and nonsyndromic congenital vertebral malformation. Discussion includes exploration of the importance of establishing improved classification systems for vertebral malformation, future directions in molecular and genetic research approaches to vertebral malformation, and translational value of research efforts to clinical management and genetic counseling of affected individuals and their families.

Full Text

Duke Authors

Cited Authors

  • Giampietro, PF; Dunwoodie, SL; Kusumi, K; Pourquié, O; Tassy, O; Offiah, AC; Cornier, AS; Alman, BA; Blank, RD; Raggio, CL; Glurich, I; Turnpenny, PD

Published Date

  • January 2009

Published In

Volume / Issue

  • 1151 /

Start / End Page

  • 38 - 67

PubMed ID

  • 19154516

Electronic International Standard Serial Number (EISSN)

  • 1749-6632

Digital Object Identifier (DOI)

  • 10.1111/j.1749-6632.2008.03452.x


  • eng

Conference Location

  • United States