BookKenro Kusumi, Sally L. Dunwoodie, editors.
Summary: Recent genetic studies of the spine has enhanced the understanding the genetic etiology of idiopathic, neuromuscular, and congenital forms of scoliosis. These findings are discussed in this timely review of scoliosis and developmental studies of the spine.
Contents:
Intro; Dedication; Preface; Contents; Contributors;
Chapter 1: Developmental andFunctional Anatomy oftheSpine; Introduction; Embryonic Origins oftheSpine; Establishing theIntersomitic Boundary; Somite Epithelialization; Rostral/Caudal Polarity ofSomites; The Anatomy andDevelopment oftheVertebrae andIntervertebral Discs; Functional Anatomy oftheVertebrae andIV Discs; Development oftheVertebrae; Rostral/Caudal Patterning; Formation oftheIV Discs; The Anatomy andDevelopment ofSpinal Muscles; Functional Anatomy oftheSpinal Muscles; Development ofSpinal Muscles. Nongenetically Linked Conditions Characterized byAxial Skeletal DefectsSpina Bifida; The VATER Association; Environmental Factors That Cause Axial Skeletal Dysmorphogenesis; Valproic Acid; Hypoxia; Carbon Monoxide; Diabetes; Retinoic Acid; Hyperthermia; Arsenic; Ethanol; Methanol; Conclusion; References;
Chapter 3: Congenital Scoliosis andSegmentation Defects oftheVertebrae intheGenetic Clinic; Introduction; Spondylocostal Dysostosis, Somitogenesis, andtheNotch Signalling Pathway; Varied Use ofClinical Terminology; Spondylocostal Dysostosis; Klippel-Feil Syndrome. Syndromes Containing CS PhenotypeAlagille Syndrome; VACTERL Association; Congenital NAD Deficiency Disorders; Facio-Auriculo-Vertebral Spectrum; Perspective; References;
Chapter 5: Animal Models ofIdiopathic Scoliosis; Introduction; Normal Spine Function Requires theIntegration ofMultiple Musculoskeletal Tissues; Spine Form Follows Dysfunction; What Makes aGood Animal Model ofDisease?; Animal Models; Mechanical Models ofIS; Environmental Models; Genetic/Heritable Models ofIS; Aquatic Models ofIS; Mouse Models; Distinct Elements oftheMammalian Spine. Tendon DevelopmentSummary; References;
Chapter 2: Environmental Factors andAxial Skeletal Dysmorphogenesis; Introduction; Vertebral Dysmorphogenesis inHuman Congenital Scoliosis; Normal Development oftheAxial Skeleton; Experimental Axial Skeletal Teratology; Pathogenesis ofAbnormal Axial Development; Overview ofAgents andConditions Associated withAxial Skeletal Teratogenesis; Recreational Teratogens; Pharmaceutical Teratogens; Industrial andEnvironmental Teratogens; Agricultural Teratogens; Infectious Diseases; Metabolic Conditions. The Genetics andClinical Description ofSCD SubtypesSCD1; SCD2; STD: Spondylothoracic Dysostosis; SCD3; SCD4; SCD5: Autosomal Dominant; SCD6; TBX6, Congenital Scoliosis, andMURCS; A New Classification andRadiological Reporting System forSDV; References;
Chapter 4: The Genetics Contributing toDisorders Involving Congenital Scoliosis; Introduction; Background; Embryological Basis ofCS; Approaches inUnderstanding theGenetic Etiology ofCS; TBX6 Variants Contributing toCS; Syndromes andDisorders Associated withVMs; Spondylocostal Dysostosis; Klippel-Feil Syndrome.