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The Man Behind the Syndrome by my friends and colleagues Peter and Greta Beighton is a delightful book which will be read eagedy and with keen intellectual pleasure by all human, medical, and dinical genetieists. The reader with a historical tum of mind will note right away that the book achieyes more than the usual entry in a dictionary of seientific biography. In addition to the standard professional data, it gives a photo and some personal glimpses of the man, allowing the reader to appreeiate his human qualities as weIl. This volume contains, so to speak, the creme de la creme, namely, those in a group whose names are daily on the lips of every practicing dinical geneticist. This interesting and instructive book is commended to all in medical genetics and the history of medieine with the highest enthusiasm and gratitude to its authors for undertaking this labor of love. A second volume is planned for more recently delineated disorders for which an eponym is not yet widely used.
Many advances have been made in understanding skeletal dysplasias since the first edition of this classic text appeared in 1974. The diagnostic process has been refined, many new disorders have been recognized, and the molecular aspects in many cases have been elucidated. The second edition has been completely renovated, with the help of two new co-authors, to incorporate these advances. The book's format is similar to the original but the number of conditions covered has almost doubled and molecular information has been added wherever available. The number of figures has been increased to the limit of economic wisdom. As in the first edition, the illustrations have been selected and sequenc...
The definitive guide to genetic bone disorders, now revised and expanded with glossy photographs and radiographs "Brilliantly written and produced and deserves to be on the shelves of all pediatric radiologists. It should also be available to geneticists, counselors, and pediatricians." --Radiology 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 Bone Dysplasias distills the insights of a small, world-class author team on diagnosis and clinical approaches to this most difficult class of disorders.
Following the pattern of previous years the 11th symposium of the S.S.I.E.M. held in the beautiful sylvan surroundings of Sussex Univ ersity, concentrated on a relatively small section of the field of inborn errors. The subject chosen-Inborn Errors of Skin, Hair and Con nective Tissue, was a highly topical one. Intensive research during the last few years particularly on the structure and disorders of connective tissue has considerably advanced our knowledge on this subject. We believe that the range of diseases covered, and the depth in which they were discussed, made this meeting unique. The proceedings contain much original material and reference information which should make them an inva...
This landmark volume is the first to trace the exciting developments in the field of dwarfism research and treatment over the past century—particularly during the past fifty years. Dr. Betty M. Adelson, a psychologist, has unearthed and synthesized the most significant information about dwarfing conditions, from articles written a century ago to current books and specialized databases. Highlighting the outstanding contributions of Dr. Victor McKusick and several of his colleagues, Dr. Adelson reveals how dwarfism specialists have helped redefine the nature of medical care—transforming it from an authoritarian enterprise into a holistic, collaborative venture among physicians, affected individuals, and their families. The parent of an adult dwarf daughter, Adelson examines the social forces that affect the dwarfism community. She offers personal descriptions of the day-to-day challenges dwarf individuals face and portrays their accomplishments. Insightful and accessible, this work will prove a valuable resource for affected individuals, their families, and medical professionals—physicians, nurses, genetic counselors, social workers, psychologists, and medical students.
The latest volume in this respected series considers chromosome instability and overgrowth syndromes, lacticacidemia, the molecular basis of HLA disease association, and the genetics of growth hormone and its disorders. Annotation copyright Book News, Inc. Portland, Or.
From reviews of previous volumes in the series: 'Extremely valuable ... thoroughly recommended.'-Annals of Human Genetics 'The most lucid and stimulating discussions of the topic to be found anywhere.'-American Scientist.
First multi-year cumulation covers six years: 1965-70.