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Bone Dysplasias: An Atlas of Genetic Disorders of Skeletal Development 4th Edition - 9780190626655
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Bone Dysplasias: An Atlas of Genetic Disorders of Skeletal Development 4th Edition

$15.00

Format

PDF

Author(s)

Jürgen W. Spranger, Paula W. Brill, Christine Hall, Gen Nishimura

Publisher

Oxford University Press

ISBN-10

0190626658

ISBN-13

978-0190626655

Pages

928

Language

English

Edition

4th edition | 2018

File Size

387 MB

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$288

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ISBN: 978-0190626655 SKU: MB1581 Categories: Genetics, Pediatrics, Radiology Tags: Atlas, Bone, Bone Dysplasias, Bone Dysplasias: An Atlas of Genetic Disorders of Skeletal Development, Bone Dysplasias: An Atlas of Genetic Disorders of Skeletal Development 4th Edition, Dysplasias, Genetic, Genetic Disorders, Skeletal
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Description

Bone Dysplasias: An Atlas of Genetic Disorders of Skeletal Development 4th Edition

Bone Dysplasias: An Atlas of Genetic Disorders of Skeletal Development Fourth 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.

Additional ISBNs:

∗ eText ISBN: 0190914521, 978-0190914523, 9780190914523

  • See additional information on the Amazon.

Table of Contents

Contents

Contents
Foreword
Acknowledgments
Introduction
1. Achondroplasia AND Related FGFR3 Conditions
2. PSEUDOACHONDROPLASIA AND DOMINANT EPIPHYSEAL DYSPLASIA
4. Spondyloepiphyseal Dysplasia Congenita And Related Type 2/ Type 11 Collagen Disorders
5. Mucopolysaccharidoses and Oligosaccharidoses
6. Metatropic Dysplasia and Other TRPV4-related Skeletal Dysplasias
7. SpondyloEpiMetaphyseal And SpondyloMetaphyseal Dysplasias
8. Diastrophic Dysplasia And Related Conditions, And Dysplasias With Joint Dislocations
9. Filamin-associated Dysplasias/Dysostoses and related disorders
10. PUNCTATE CALCIFICATION GROUP
11. Short-rib (+/- polydactyly) dysplasias
12. Rhizo-MESOMELIC DYSPLASIAS
13. Acromesomelic AND ACROMELIC Dysplasias/DYSOSTOSeS
14. Osteogenesis Imperfecta and other Disorders with Decreased Bone Density
15. Dysorders With Defective Mineralization
16. Dense Bone Dysplasias with Normal Bone Shape
17. Dense Bone Dysplasias with Meta-Diaphyseal Modeling Defects
18. Osteolyses
19. DISORDERS CAUSED BY DISORGANIZATION OF SKELETAL CONSTITUENTS
20. Polytopic Dysostoses
21. Disorders With Prenatal Short Stature And Slender Bones
22. OVERGROWTH / ACCELERATED SKELETAL MATURATION SYNDROMES (SELECTED)
23. CRANIOSYNOSTOSIS SYNDROMES
24. Spondylocostal dysostoses (SCD)
25 Limb Aplasias And Hypoplasias (selected)
26. DISORDERS WITH DEFECTIVE JOINT FORMATION
Index

About the Author

Jürgen W. Spranger , Paula W. Brill, Christine Hall , Gen Nishimura, Andrea Superti-Furga, Sheila Unger

Jürgen W. Spranger, M.D., is Professor Emeritus of Pediatrics, Children’s Hospital, University of Mainz, Mainz, Germany and Senior Genetics Scholar, Greenwood Genetic Center, Greenwood, SC.

Paula W. Brill, M.D., is Professor Emerita of Radiology, Weill Cornell Medical College New York, NY, and former Chief of Pediatric Radiology, New York Presbyterian Hospital.

Christine Hall, M.D., is Professor of Pediatric Radiology, University College London and formerly Consultant Pediatric Radiologist, Great Ormond Street Hospital for Children, London, UK. She is currently an Honorary Consultant, St George’s, University of London.

Gen Nishimura, M.D., is Visiting Professor at the Center for Intractable Disease, Saitama Medical University Hospital, and former Radiologist-in-Chief, Department of Pediatric Imaging, Tokyo Metropolitan Children’s Medical Center.

Andrea Superti-Furga, M.D., is Professor of Pediatrics and Genetics at the University of Lausanne and Head of the Division of Genetic Medicine, Lausanne University Hospital, Lausanne, Switzerland.

Sheila Unger, M.D., is Privat-docent at the University of Lausanne, Senior Geneticist at the Division of Genetic Medicine, Lausanne University Hospital, Lausanne, Switzerland, and formerly Coordinator at the European Skeletal Dysplasia Network.

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Bone Dysplasias: An Atlas of Genetic Disorders of Skeletal Development 4th Edition - 9780190626655

Bone Dysplasias: An Atlas of Genetic Disorders of Skeletal Development 4th Edition

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