The Genetics and Development of Scoliosis PDF
2.41 MB PDF
Scoliosis is a lateral curvature of the spine that is frequently encountered by healthcare professionals. Scoliosis has historically been categorized into congenital, neuromuscular, and idiopathic forms, and related curves include kyphosis, kyphoscoliosis, and lordosis. Patients affected by scoliosis are concerned about prognosis, associated health conditions, and recurrence risks. Developmental genetic studies of the spine and linkage and family-based association studies have led to recent advances in understanding the genetic etiology of idiopathic and congenital scoliosis. Advances in genotyping and sequencing technology promise to further increase our understanding of the heterogeneous group of disorders involving spinal curvatures.
The inspiration for this volume was derived from the invited session, Straightening Out the Curves: Understanding the Genetics Basis of Idiopathic and Congenital Scoliosis organized at the 2008 American College of Medical Genetics, Annual Clinical Genetics Meeting in Phoenix, AZ, USA. The goals of that session were to bring leading researchers of both congenital and idiopathic scoliosis to present the current state of research and to compare potential shared developmental and genetic mechanisms. Following up on the discussions from this session, this volume presents the recent advances in studies of early spinal development and how disruptions in embryonic segmentation can lead to congenital vertebral defects. This volume also describes a recently defined clinical classification system for congenital vertebral disorders, based on identification of mutations in genes regulating segmentation. In addition, recent reports of genetic loci predisposing patients to develop juvenile and adolescent idiopathic scoliosis are presented, and key clinical features are reviewed. Finally, there is discussion of how genetic heterogeneity and gene–environment interactions may contribute to congenital scoliosis and isolated vertebral malformations.
Our understanding of the genetic and developmental mechanisms underlying scoliosis is rapidly evolving, and our goal in editing The Genetics and Development of Scoliosis was to provide researchers, clinicians, and students with the emerging views in this field.
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