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The definitive guide to genetic bone disorders, now revised and expanded with glossy photographs and radiographs. 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 edition of Bone Dysplasias distills the insights of a small, world-class author team on diagnosis and clinical approaches to this most difficult class of disorders and includes : updated and expanded genotype-phenotype correlations, including a great number of newly discovered genes, increasing its usefulness for geneticists, pediatricians, and counselors ; hundreds of new figures ; gene index facilitates rapid consultation by professionals involved in evaluation of next-generation sequencing results.