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Bone Dysplasias An Atlas of Genetic Disorders of Skeletal Development
TRUE PDF
Price 1€
2018
(Original quality)
4th Edition
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.” —Radiology
This 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 prognostic and 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.
Review
“No books come to mind for comparison. This is a unique and high-quality publication that should be considered essential for teaching and practicing medical genetics.” — Luis F Escobar, Doodys
Contents
۱ Achondroplasia And Related FGFR3 Conditions
۲ Pseudoachondroplasia And Dominant Epiphyseal Dysplasia
۳ Dysplasias With Predominant Metaphyseal Involvement
۴ Spondyloepiphyseal Dysplasia Congenita And Related Type ۲/ Type ۱۱ Collagen Disorders
۵ Mucopolysaccharidoses And Oligosaccharidoses
۶ Metatropic Dysplasia And Other TRPV4-Related Skeletal Dysplasias
۷ SpondyloEpiMetaphyseal And SpondyloMetaphyseal Dysplasias
۸ Diastrophie Dysplasia And Related Conditions,. And Dysplasias With Joint Dislocations
۹ FilaminAssociated Dysplasias/ Dysostoses And Related Disorders
۱۰ Punctate Calcification Group
۱۱ ShortRib (^polydactyly) Dysplasias
۱۲ RhizoMesomelic Dysplasias
۱۳ Aeromesomelie And Aeromelie Dysplasias/ Dysostoses
۱۴ Osteogenesis Imperfecta And Other Disorders With Decreased Bone Density
۱۵ Dysorders With Defective Mineralization
۱۶ Dense Bone Dysplasias With Normal Bone Shape
۱۷ Dense Bone Dysplasias With MetaDiaphyseal Modeling Defects
۱۸ Osteolyses
۱۹ Disorders Caused By Disorganization Of Skeletal Constituents
۲۰ Polytopic Dysostoses
۲۱ Disorders With Prenatal Short Stature And Slender Bones
۲۲ Overgrowth/ Accelerated Skeletal Maturation Syndromes (selected)
۲۳ Craniosynostosis Syndromes
۲۴ Spondylocostal Dysostoses
۲۵ Limb Aplasias And Hypoplasias (selected)
۲۶ Disorders With Defective Joint Formation