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BL
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| Record Number
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873244
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| Main Entry
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Spranger, Jürgen W.
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| Title & Author
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Bone dysplasias : : an atlas of genetic disorders of skeletal development /\ Jürgen W. Spranger [and five others].
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| Edition Statement
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Fourth edition.
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| Publication Statement
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Oxford :: Oxford University Press,, [2018]
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, ©2018
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| Page. NO
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1 online resource (xxiv, 901 pages) :: illustrations
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| ISBN
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0190626666
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: 0190626674
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: 9780190626662
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: 9780190626679
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0190626658
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9780190626655
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| Notes
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Revised edition of: Bone dysplasias : an atlas of genetic disorders of skeletal development / Jürgen W. Spranger [and others]. 3rd ed. ©2012.
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| Bibliographies/Indexes
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Includes bibliographical references and index.
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| Contents
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Achondroplasia and Related FGFR3 Conditions -- Pseudoachondroplasia and dominant epiphyseal dysplasia -- Dysplasias with predominant metaphyseal involvement -- Spondyloepiphyseal dysplasia conjenita and related type 2/Type 11 collagen disorder -- Mucopolysaccaccharidoses and oligosaccharidoses -- Metatropic dysplasia and other TRPV4-related skeletal dysplasias -- Spondylo-epi-metaphyseal and spondylo-metaphyseal dysplasias -- Diastrophic dysplasia and related conditions, and dysplasias with joint dislocation -- Filamin-associated Dysplasias/Dysostoses and related disorders -- Punctate calcification group -- Short-rib (± polydactyly) dysplasias -- Rhizo-mesomelic dysplasias -- Acromesomelic and acromelic Dysplasias/Dysostoses -- Osteogenesis Imperfecta and other Disorders with Decreased Bone Density -- Dysorders with defective mineralization -- Dense bone dysplasias with normal bone shape -- Dense bone dysplasias with meta-diaphyseal modeling defects -- Ostelyses -- Disorders caused by disorganisation of skeletal constituents -- Polytopic dysostoses -- Disorders with prenatal short stature and slender bones -- Overgrowth/accelerated skeletal maturation syndromes (selected) -- Craniosynostosis syndromes -- Spondylocostal dysostoses (SCD) -- Limb aplasias and hypoplasias (selected) -- Disorders with defective joint formation.
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| Abstract
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"This is a unique atlas presenting age-related radiographs on more than 250 rare constitutional skeletal diseases (dysplasias, dysostoses, osteolyses, disorders of bone density, and more) focusing on diagnostically essential radiographic 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. A major advantage is the systematic conformation of chapters, sparing the reader a cumbersome read-through of longer text. Presentation in accordance with the most recent International Nosology and Classification of Genetic Skeletal Disorders"--Publisher's description.
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| Subject
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Bones-- Diseases-- Genetic aspects, Atlases.
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Bones-- Diseases-- Genetic aspects.
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HEALTH FITNESS-- Diseases-- General.
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MEDICAL-- Clinical Medicine.
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MEDICAL-- Diseases.
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MEDICAL-- Evidence-Based Medicine.
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MEDICAL-- Internal Medicine.
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Bone Diseases, Developmental-- genetics.
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| Subject
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Diagnosis, Differential.
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| Dewey Classification
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616.71
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| LC Classification
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RC930
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| NLM classification
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WE 17
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