Bone Dysplasias: An Atlas of Genetic Disorders of Skeletal Development by Jurgen W. Spranger, Paula Brill, Andrea Superti-Furga, Sheila Unger, Gen Nishimura
Bone Dysplasias: An Atlas of Genetic Disorders of Skeletal Development by Jurgen W. Spranger, Paula Brill, Andrea Superti-Furga, Sheila Unger, Gen Nishimura PDF, ePub eBook D0wnl0ad
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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