GENETICS OF SCOLIOSIS

Author:

Heary Robert F.1,Madhavan Karthik1

Affiliation:

1. Department of Neurological Surgery, University of Medicine and Dentistry of New Jersey–New Jersey Medical School, Newark, New Jersey

Abstract

ABSTRACTSCOLIOSIS IS ONE of the oldest known deformities of humankind; however, the cause still remains ill defined. Although there is a lack of uniform agreement on the inclusion criteria for the definition of scoliosis, most investigators agree that a coronal curve must measure at least 10 degrees for the patient to be considered to have scoliosis. A broad range of articles were reviewed and the relevant publications that contributed information regarding the genetics of scoliosis were selected for inclusion in this report. Based on family pedigree and genetic studies, the proposed pattern of inheritance for markers of scoliosis are expected to be autosomal dominant, X-linked, multigene, or multifactorial. This is further complicated by locus heterogeneity, allele heterogeneity, and carrier states found in normal individuals. Although none of these modes of inheritance has been definitively proven, it appears that a multifactorial mode of inheritance with variable penetrance is the most likely method.

Publisher

Ovid Technologies (Wolters Kluwer Health)

Subject

Clinical Neurology,Surgery

Reference47 articles.

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3. Segregation analysis of idiopathic scoliosis: Demonstration of a major gene effect;Axenovich;Am J Med Genet,1999

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5. Current theories on the etiology of idiopathic scoliosis;Byrd;Clin Orthop Relat Res,1988

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