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- Title
Progress in the Understanding of the Genetic Etiology of Vertebral Segmentation Disorders in Humans.
- Authors
Giampietro, Philip F.; Dunwoodie, Sally L.; Kusumi, Kenro; Pourquié, Olivier; Tassy, Olivier; Offiah, Amaka C.; Cornier, Alberto S.; Alman, Benjamin A.; Blank, Robert D.; Raggio, Cathleen L.; Glurich, Ingrid; Turnpenny, Peter D.
- Abstract
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.
- Subjects
SCOLIOSIS; KYPHOSIS; NECK pain; DISABILITIES; EMBRYOLOGY; GENETIC counseling; SYNDROMES; HUMAN abnormalities; ETIOLOGY of diseases
- Publication
Annals of the New York Academy of Sciences, 2009, Vol 1151, p38
- ISSN
0077-8923
- Publication type
Article
- DOI
10.1111/j.1749-6632.2008.03452.x