Management of Genetic Syndromes

The bestselling guide to the medical management of commongenetic syndromes --now fully revised and expanded A review in the American Journal of Medical Geneticsheralded the first edition of Management of GeneticSyndromes as an "unparalleled collection of knowledge." Sincepublication of the first edition, improvements in the moleculardiagnostic testing of genetic conditions have greatly facilitatedthe identification of affected individuals. This thorough revisionof the critically acclaimed bestseller offers original insightsinto the medical management of sixty common genetic syndromes seenin children and adults, and incorporates new research findings andthe latest advances in diagnosis and treatment of thesedisorders. Expanded to cover five new syndromes, this comprehensive newedition also features updates of chapters from the previouseditions. Each chapter is written by an expert with extensivedirect professional experience with that disorder and incorporatesthoroughly updated material on new genetic findings, consensusdiagnostic criteria, and management strategies. Edited by two ofthe field's most highly esteemed experts, this landmark volumeprovides: * A precise reference of the physical manifestations of commongenetic syndromes, clearly written for professionals andfamilies * Extensive updates, particularly in sections on diagnosticcriteria and diagnostic testing, pathogenesis, and management * A tried-and-tested, user-friendly format, with each chapterincluding information on incidence, etiology and pathogenesis,diagnostic criteria and testing, and differential diagnosis * Up-to-date and well-written summaries of the manifestationsfollowed by comprehensive management guidelines, with specificadvice on evaluation and treatment for each system affected,including references to original studies and reviews * A list of family support organizations and resources forprofessionals and families Management of Genetic Syndromes, Third Edition is apremier source to guide family physicians, pediatricians,internists, medical geneticists, and genetic counselors in theclinical evaluation and treatment of syndromes. It is also thereference of choice for ancillary health professionals, educators,and families of affected individuals looking to understandappropriate guidelines for the management of these disorders. From a review of the first edition: "An unparalleled collection of knowledge . . . unique, offeringa gold mine of information." --American Journal of MedicalGenetics