Bone Dysplasias: An Atlas of Genetic Disorders of Skeletal Development

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9780195396089: Bone Dysplasias: An Atlas of Genetic Disorders of Skeletal Development
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Since the publication of the second edition on Bone Dysplasias ten years ago, there has been an explosion of knowledge about skeletal dysplasias. The molecular basis of a great number of disorders has been delineated, and many new conditions have been recognized. Now more than ever, the importance of accurate diagnosis cannot be overstated. Given the growth of activity and research in the field, practitioners must acknowledge that many conditions with superficial similarities have different inheritance patterns and prognoses. Various research and routine laboratories can pinpoint specific diagnoses, but before the appropriate laboratory can be consulted and eventual costs considered, clinical and radiographic features must be identified with a high degree of precision.

Fully updated and expanded, this new edition of Bone Dysplasias contains:

- More than 100 chapters on newer entities to assist the practitioner in narrowing a group of diagnostic possibilities to a specific disorder
- Over 2,500 diagnostic radiographs with concise clinical and biological information on a total of 275 rare constitutional skeletal diseases
- Concise data on the etiopathogenesis, natural course, complications, and differential diagnosis of rare conditions.

A true landmark in the study and investigation of bone dysplasias, this comprehensive volume will be a must-have resource radiologists, medical geneticists, orthopedic surgeons, pediatricians, and genetic counselors caring for patients with bone dysplasias.

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About the Author:


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 Brill, M.D., is Professor of Radiology, Cornell University Medical College, New York, NY.

Andrea Superti-Furga, M.D., Professor of Pediatrics, University of Freiburg, Freiburg, Germany.

Sheila Unger, M.D., is Geneticist, Department of Human Genetics, University of Freiburg, Freiburg, Germany.

Gen Nishimura, M.D., is Radiologist-in-Chief, Department of Pediatric Imaging, Tokyo Metropolitan Children's Medical Center.

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Book Description Oxford University Press, United Kingdom, 2012. Hardback. Condition: New. 3rd Revised edition. Language: English . This book usually ship within 10-15 business days and we will endeavor to dispatch orders quicker than this where possible. Brand New Book. Since the publication of the second edition on Bone Dysplasias ten years ago, there has been an explosion of knowledge about skeletal dysplasias. The molecular basis of a great number of disorders has been delineated, and many new conditions have been recognized. Now more than ever, the importance of accurate diagnosis cannot be overstated. Given the growth of activity and research in the field, practitioners must acknowledge that many conditions with superficial similarities have different inheritance patterns and prognoses. Various research and routine laboratories can pinpoint specific diagnoses, but before the appropriate laboratory can be consulted and eventual costs considered, clinical and radiographic features must be identified with a high degree of precision. Fully updated and expanded, this new edition of Bone Dysplasias contains: - More than 100 chapters on newer entities to assist the practitioner in narrowing a group of diagnostic possibilities to a specific disorder - Over 2,500 diagnostic radiographs with concise clinical and biological information on a total of 275 rare constitutional skeletal diseases - Concise data on the etiopathogenesis, natural course, complications, and differential diagnosis of rare conditions. A true landmark in the study and investigation of bone dysplasias, this comprehensive volume will be a must-have resource radiologists, medical geneticists, orthopedic surgeons, pediatricians, and genetic counselors caring for patients with bone dysplasias. Seller Inventory # BZE9780195396089

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