The definitive guide to genetic bone disorders, now revised and expanded with glossy photographs and radiographs“Brilliantly written and produced and deserves to be on the shelves of all pediatric radiologists. It should also be available to geneticists, counselors, and pediatricians.” —RadiologyThis updated and expanded fourth edition of Bone Dysplasias presents age-related radiographs, photographs and clinical guidelines for more than 250 rare constitutional skeletal diseases. Focusing on diagnostically essential imaging and clinical features, each chapter is supplemented with prognosticand therapeutic information, a guide to differential diagnoses, and a short list of the most relevant publications.Organized in accordance with the most recent International Nosology and Classification of Genetic Skeletal Disorders, this new Bone Dysplasias distills the insights of a small, world-class author team on diagnosis and clinical approaches to this most difficult class of disorders.
Contents: فهرست فصول
ContentsForewordAcknowledgmentsIntroduction1. Achondroplasia AND Related FGFR3 Conditions2. PSEUDOACHONDROPLASIA AND DOMINANT EPIPHYSEAL DYSPLASIA4. Spondyloepiphyseal Dysplasia Congenita And Related Type 2/ Type 11 Collagen Disorders5. Mucopolysaccharidoses and Oligosaccharidoses6. Metatropic Dysplasia and Other TRPV4-related Skeletal Dysplasias7. SpondyloEpiMetaphyseal And SpondyloMetaphyseal Dysplasias8. Diastrophic Dysplasia And Related Conditions, And Dysplasias With Joint Dislocations9. Filamin-associated Dysplasias/Dysostoses and related disorders10. PUNCTATE CALCIFICATION GROUP11. Short-rib (+/- polydactyly) dysplasias12. Rhizo-MESOMELIC DYSPLASIAS13. Acromesomelic AND ACROMELIC Dysplasias/DYSOSTOSeS14. Osteogenesis Imperfecta and other Disorders with Decreased Bone Density15. Dysorders With Defective Mineralization16. Dense Bone Dysplasias with Normal Bone Shape17. Dense Bone Dysplasias with Meta-Diaphyseal Modeling Defects18. Osteolyses19. DISORDERS CAUSED BY DISORGANIZATION OF SKELETAL CONSTITUENTS20. Polytopic Dysostoses21. Disorders With Prenatal Short Stature And Slender Bones22. OVERGROWTH / ACCELERATED SKELETAL MATURATION SYNDROMES (SELECTED)23. CRANIOSYNOSTOSIS SYNDROMES24. Spondylocostal dysostoses (SCD)25 Limb Aplasias And Hypoplasias (selected)26. DISORDERS WITH DEFECTIVE JOINT FORMATIONIndex