Bone Dysplasias An Atlas of Genetic Disorders of Skeletal Development

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

• ISBN13: 9780190626679
• ISBN10: 0190626674
• Edition: 4th
• Format: eBook
• Copyright: 2018-11-15
• Publisher: Oxford University Press

Summary

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.

Author Biography

J?rgen 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.