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The Genetics and Development of Scoliosis edited by Kenro Kusumi, Ph.D. Table of Contents: Genetic Regulation of Somite and Early Spinal Patterning Kenro Kusumi, Ph.D., Walter Eckalbar, Olivier Pourquie, Ph.D. Development and Functional Anatomy of the Spine J. Alan Rawls, PhD and Rebecca E. Fisher, PhD Environmental Factors and Axial Skeletal Dysmorphogenesis Peter G. Alexander, Ph.D. and Rocky Tuan, Ph.D. Overview and Comparison of Idiopathic, Neuromuscular, and Congenital Forms of Scoliosis Benjamin Alman, M.D. Abnormal Vertebral Segmentation (or Segmentation Defects of the Vertebrae) and the Spondylocostal Dysostoses Peter D. Turnpenny, M.B.Ch.B. Spondylothoracic Dysostosis in Puerto Rico Alberto Santiago Cornier, M.D., Ph.D. Progress in Understanding Genetic Contributions in Syndromic and Non-Syndromic Disorders Associated with Congenital, Neuromuscular, and Idiopathic Scoliosis Philip F. Giampietro, M.D., Ph.D. Genetics and Functional Pathology of Idiopathic Scoliosis Nancy Hadley Miller, M.D. Current Understanding of Genetic Factors in Idiopathic Scoliosis Carol A. Wise, Ph.D. and Swarkar Sharma, Ph.D. Conclusion: Trends and Predictions for Genetic and Developmental Biological Research on Scoliosis Kenro Kusumi, Ph.D.

Scoliosis -- Genetic aspects. --- Scoliosis --- Biology --- Spinal Curvatures --- Genetics --- Biological Science Disciplines --- Spinal Diseases --- Bone Diseases --- Natural Science Disciplines --- Musculoskeletal Diseases --- Disciplines and Occupations --- Diseases --- Surgery & Anesthesiology --- Medicine --- Surgery - General and By Type --- Pathology --- Health & Biological Sciences --- Genetic aspects --- Spine --- Genetic aspects. --- Diseases. --- Medicine. --- Human genetics. --- Human physiology. --- Orthopedics. --- Developmental biology. --- Biomedicine. --- Human Genetics. --- Developmental Biology. --- Human Physiology. --- Abnormalities --- Orthopaedics --- Orthopedia --- Surgery --- Human biology --- Medical sciences --- Physiology --- Human body --- Development (Biology) --- Growth --- Ontogeny --- Heredity, Human --- Physical anthropology

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"About 85% of spine deformities (scoliosis, kyphosis, lordosis) are idiopathic, but some forms are caused by severe neuromuscular disorder such as muscular dystrophy, cerebral palsy, Friedreich's ataxia, and spinal cord tumors and lesions. These are more difficult conditions, since curve progression is much greater than in idiopathic conditions and bracing does not usually prevent progression of the spinal curvature. Smaller curvatures in nonambulatory patients can sometimes be treated by wheelchair modifications, but most patients will undergo surgery. These surgeries are complex because of the severity of the condition itself and because of the various other medical conditions affecting these patients. There is currently no book on the topic, and chapters in spine deformity books give the topic scant coverage. Samdani et al are the world's leader in this field, and they will present the definitive book on the topic, featuring foundational chapters, coverage of the specific neuromuscular disorders, surgical techniques, and postop considerations and complications, and the will be accompanied by surgical videos. The Authors are members of the prestigious Harms Study Group, a worldwide association of spine surgeons performing multi-center research studies on scoliosis"--Provided by publisher.

Spine --- Neuromuscular diseases --- Spine. --- Surgery. --- Neuromuscular Diseases. --- Neuromotor disorders --- Neuromuscular disorders --- Muscles --- Nervous system --- Cramp-Fasciculation Syndrome --- Fasciculation-Cramp Syndrome, Benign --- Foley-Denny-Brown Syndrome --- Oppenheim's Disease --- Amyotonia Congenita --- Oppenheim Disease --- Benign Fasciculation-Cramp Syndrome --- Benign Fasciculation-Cramp Syndromes --- Cramp Fasciculation Syndrome --- Cramp-Fasciculation Syndromes --- Fasciculation Cramp Syndrome, Benign --- Fasciculation-Cramp Syndromes, Benign --- Foley Denny Brown Syndrome --- Neuromuscular Disease --- Oppenheims Disease --- Syndrome, Cramp-Fasciculation --- Syndrome, Foley-Denny-Brown --- Syndromes, Cramp-Fasciculation --- Vertebra --- Spinal Column --- Vertebrae --- Vertebral Column --- Column, Spinal --- Column, Vertebral --- Columns, Spinal --- Columns, Vertebral --- Spinal Columns --- Vertebral Columns --- Abnormalities --- Complications. --- Diseases --- Spinal Curvatures --- Neuromuscular Diseases --- Orthopedic Procedures --- Perioperative Care. --- Child. --- surgery. --- complications. --- methods. --- Children --- Minors --- Care, Perioperative

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In this Special Issue of Genes entitled “Genetic Conditions Affecting the Skeleton: Congenital, Idiopathic Scoliosis and Arthrogryposis”, evidence is presented that suggests that congenital, idiopathic scoliosis, and arthrogryposis share similar overlapping, but also distinct, etiopathogenic mechanisms, including connective tissue and neuromuscular mechanisms. Congenital scoliosis (CS) is defined by the presence of an abnormal spinal curvature, due to an underlying vertebral bony malformation (VM). Idiopathic scoliosis (IS) is defined by the presence of an abnormal structural spinal curvature of ≥10 degrees in the sagittal plane, in the absence of an underlying VM. Arthrogryposis is defined by the presence of congenital contractures in two or more joints of the appendicular skeleton. All three conditions have complex genetic causes. This Special Issue highlights the complex nature of these conditions and current concepts in our approach to better understand their genetics.

Research & information: general --- Biology, life sciences --- Genetics (non-medical) --- spinal curvatures --- scoliosis --- idiopathic --- DNA methylation --- pyrosequencing --- estrogen receptor 1 --- ESR1 --- scoliosis progression --- adolescent idiopathic scoliosis --- idiopathic scoliosis --- exome sequencing --- spine --- polygenic --- variants --- musculoskeletal disease --- cytoskeleton --- extracellular matrix --- contracture --- arthrogryposis --- congenital --- POC5 --- cilia --- genetics --- spine deformity --- genetic predisposition --- complex trait --- model animal --- genome wide association study --- genetic linkage study --- Amyoplasia --- DECIPHER (DatabasE of genomiC variation and Phenotype in Humans using Ensemble Resources) --- CNV (copy number variant) --- DA (distal arthrogryposis) --- IPA (ingenuity pathway analysis) --- HPO (human phenotype ontology) --- akinesia --- MYOD --- IGF2 --- FGFR1 (Fibroblast growth factor receptor 1) --- genetic variations --- congenital scoliosis --- monozygotic twin --- epigenome-wide association study --- bone --- discordant --- curve severity --- differentially methylated region --- congenital vertebral malformation --- copy number variant --- CNV --- CHRNG --- distal arthrogryposis type 8 --- Escobar --- multiple pterygium syndrome --- MYH3 --- protein tyrosine kinase 7 (PTK7) --- whole exome sequencing --- n/a