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Dwarfism
"A great leap forward for the social and cultural condition of dwarfism." -- Andrew Solomon, "Newsday" 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.
Dwarfism
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Dwarf
“It's okay with me if you picked up this book because you're curious about what it's like to live with dwarfism. But I hope that you'll take away much more—about adapting to the world when it won't adapt to you.”—from Dwarf A memoir of grit and transformation for anyone who has been told something was impossible and then went on to do it anyway. Tiffanie DiDonato was born with dwarfism. Her limbs were so short that she was not able to reach her own ears. She was also born with a serious case of optimism. She decided to undergo a series of painful bone-lengthening surgeries that gave her an unprecedented 14 inches of height—and the independence she never thought she’d have. After ...
Gamut Index of Skeletal Dysplasias
The skeleton is involved to a significant extent in more than 500 genetic and congenital syndromes and although the majority of these are individually rare, collectively they are not uncommon. Diagnostic precision, which is crucial for accurate prognostica tion and effective management, is frequently dependent upon recognition of radiological stigmata. For this reason the radiologist plays a key role in the appraisal and investigation of persons with disorders of this type. With these points in mind we have written this handbook for use in the radiographic reporting room. We have endeavored to provide the essential information which will facilitate radiodiagnosis and have striven for clarity...
Syndromes of the Head and Neck
This classic text, one of the true anchors of our clinical genetics publishing program, covers over 700 different genetic syndromes involving the head and neck, and it has established itself as the definitive, comprehensive work on the subject. The discussion covers the phenotype spectrum, epidemiology, mode of inheritance, pathogenesis, and clinical profile of each condition, all of which is accompanied by a wealth of illustrations. The authors are recognized leaders in the field, and their vast knowledge and strong clinical judgment will help readers make sense of this complex and burgeoning field. Dr. Gorlin retires as editor in this edition and co-editor Raoul Hennekam takes over. Dr. He...
Gamut Index of Skeletal Dysplasias
The first edition of this book provided a convenient passage through the minefield of skeletal dysplasia terminology and diag nosis, and has proved of immense value to its users. In the ten years since publication, many more syndromes have inevitably been described, the terminology has been revised, and the aetiology of a number of these conditions has been elucidated. The terminology used in the book is firmly based on the 1992 revision of the International Nomenclature. It is pleasing to see how this terminology is being accepted in the world literat ure, with a re duction in the confusion previously engendered by different usages. Readers of the book will find more than bare gamut listing...
Restricted Growth
Restricted growth conditions are a group of genetic disorders with primary effect on growth (short stature); it is very heterogeneous and comprises two important categories: skeletal dysplasia and different genetic syndromes with primary effect on growth. It could also be caused by a medical condition. The book contains chapters regarding different aspects of the study of restricted growth that are divided into three broad sections. Section I: Defining Restricted Growth, Section II: Genetics and Diagnosis of Restricted Growth, and Section III: Signaling Pathways and Molecular Mechanisms of Restricted Growth. The book presents comprehensive reviews of each topic written by experts in the field. It will be the most valuable tool for physicians and life science researchers and students. We hope that the book will motivate discussion and research in this important health problem, setting the path for better therapeutic approaches.
Bone Dysplasias of Infancy
The tremendous expansion of medical knowledge during the last few decades, together with the introduction of many new diagnostic techniques, has demanded such a degree of specialisation that no single individual can be conversant with all the information available. More and more emphasis, therefore, has been placed on the importance of teamwork and close collaboration between associated disciplines. The bone dysplasias of infancy represent a classical example of this concept. Only a few years ago these heritable conditions were divided into a relatively small number of entities, for many of which "atypical variants" were accepted. More recent studies have resulted in appreciation and early r...
