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This is the third edition of the foremost medical reference on genetic hearing loss, updated to include new information on molecular mechanisms. It is an excellent resource for physicians, audiologists, and other professionals working with individuals with hearing loss and their families, and for clinical training programs and researchers in hearing sciences.
This issue of the Atlas of the Oral and Maxillofacial Surgery Clinics of North America serves as an aid to identification of 70 of the more important head and neck syndromes, and organized using the same nosology as in the landmark text of Robert Gorlin. As such, it should be useful to a varied audience, including not only the oral and maxillofacial surgeon but also the oral pathologist, the practitioner of oral medicine, and members of the craniofacial team--the orthodontist, pediatric dentist, speech and language specialist, geneticist, plastic surgeon, ENT specialist, pediatrician, nurse coordinator, and others. Areas covered include: Craniosynostosis Syndromes; Syndromes Affecting Bone; Metabolic and Autoimmune Syndromes; Syndromes Affecting Skin and Mucosa; Hamartoneoplastic Syndromes; Branchial Arch Syndromes; Clefting Syndromes; Syndromes Affecting the Central Nervous System; Chromosomal Syndromes; Syndromes with Unusual Facies; and Syndromes with Unusual Dental Findings or Gingival Components.
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...
This book provides a novel method to teach eponymically named physical signs of the alimentary tract and intrabdominal organs. The focus is on the historical aspect of the named signs, how to perform the sign described by the author, and the pathophysiologic mechanisms involved in eliciting a positive test. The goal is to guide the reader to appreciate how these bedside signs provide a more profound understanding of the mechanism of disease. By doing so, they become more than simply rote memorization but an appreciation of how a direct hands-on assessment involving observing, engaging, listening, and touching the patient assists in diagnosis. Hence, these techniques provided the additional b...
Ancient Greek images of disability permeate the Western consciousness: Homer, Teiresias, and Oedipus immediately come to mind. But The Staff of Oedipus looks at disability in the ancient world through the lens of disability studies, and reveals that our interpretations of disability in the ancient world are often skewed. These false assumptions in turn lend weight to modern-day discriminatory attitudes toward disability. Martha L. Rose considers a range of disabilities and the narratives surrounding them. She examines not only ancient literature, but also papyrus, skeletal material, inscriptions, sculpture, and painting, and draws upon modern work, including autobiographies of people with disabilities, medical research, and theoretical work in disability studies. Her study uncovers the realities of daily life for people with disabilities in ancient Greece and challenges the translation of the term adunatos (unable) as "disabled," with all its modern associations.
First multi-year cumulation covers six years: 1965-70.
"This book traces the development of genetics in medicine from the first descriptions of inherited diseases more than 300 years ago to the new applications resulting from mapping and sequencing the human genome. It follows both the scientific and the medical advances, focusing especially on those of the past 50 years, which have seen the field of medical genetics emerge as one of the foremost and most rapidly changing medical specialties, now influencing the whole of medicine. It also examines the ethical challenges faced by those working in the field, and describes some of the past disasters that have resulted from these being ignored, notably the abuses of eugenics and the catastrophic destruction of genetics in Soviet Russia. This is the first book of its kind; it is clearly and simply written, and will be valuable to all those who have an interest or concern in the development of medical genetics, as well as those actually working in the field. Historians and social scientists will likewise find this book an important foundation for future detailed studies, which are urgently needed."--BOOK JACKET.
Continues the annual series presenting review articles designed to keep specialists abreast of advances in other disciplines working on human genetics. The five reviews cover genital adrenal hyperplasia, amyloidosis, Huntington's disease, cystic fibrosis, and von Recklinghausen neurofibromatosis. An
The current volume includes chapters on peroxisomal disorders, genetic aspects of cancer, Gaucher disease, and other topics.