Management of Genetic Syndromes скачать fb2

The American Journal of Medical Genetics heralded the first edition of Management of Genetic Syndromes as an «unparalleled collection of knowledge.» Since the first edition's publication, advances have been made in diagnosis, understanding, and treatment of genetic syndromes, resulting in the potential for a higher quality of life for individuals affected. Management of Genetic Syndromes, Second Edition incorporates all the most recent developments in knowledge about and management of the most common genetic syndromes seen in children and adults. Expanded to cover twenty-five new syndromes, this comprehensive new edition also features thorough updates of chapters from the first edition. Edited by two of the field's most highly esteemed experts, each chapter is written by an expert with extensive direct professional experience with that disorder and includes detailed coverage of: Incidence Etiology and pathogenesis Natural history Diagnostic criteria and diagnostic testing, including photographs of distinctive physical findings Differential diagnosis Evaluation Management throughout life References and resources, including family support organizations Written to be clear and accessible to medical generalists and specialists, as well as allied health and education professionals and families, Management of Genetic Syndromes, Second Edition provides a unique and up-to-date resource for this rapidly developing field.