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Author: Roger E. Stevenson Publisher: Oxford University Press ISBN: 019974808X Category : Medical Languages : en Pages : 1510
Book Description
This widely acclaimed reference work gives a comprehensive survey of all significant human malformations and related anomalies from the perspective of the clinician. The anomalies are organized by anatomical system and presented in a consistent manner, including details of the clinical presentation, epidemiology, embryology, treatment and prevention for each anomaly. When known, the molecular or other pathogenetic basis for the malformation is given. Most anomalies are illustrated by photographs or drawings. Specific malformations are linked to syndromes through the extensive use of differential diagnosis tables. Over a decade has passed since the first edition of this book was published, and the revised edition fully incorporates the advances made in the field during the intervening years.. It reflects new understanding of human developmental biology that has emerged from molecular, cytogenetic, and biochemical studies; new observations by clinicians as well as enhanced diagnostic and prevention capacities; and more accurate and comprehensive epidemiology. By condensing much of the information presented in the first volume of the previous edition, and exercising rigorous editorial control, Drs. Stevenson and Hall and their contributors have managed to update the book while reducing its size to that of a single volume. All clinicians and scientists interested in birth defects, including pediatricians, geneticists, genetic counselors, obstetricians, and pediatric pathologists, will find this book to be an invaluable source of information.
Author: Roger E. Stevenson Publisher: Oxford University Press ISBN: 019974808X Category : Medical Languages : en Pages : 1510
Book Description
This widely acclaimed reference work gives a comprehensive survey of all significant human malformations and related anomalies from the perspective of the clinician. The anomalies are organized by anatomical system and presented in a consistent manner, including details of the clinical presentation, epidemiology, embryology, treatment and prevention for each anomaly. When known, the molecular or other pathogenetic basis for the malformation is given. Most anomalies are illustrated by photographs or drawings. Specific malformations are linked to syndromes through the extensive use of differential diagnosis tables. Over a decade has passed since the first edition of this book was published, and the revised edition fully incorporates the advances made in the field during the intervening years.. It reflects new understanding of human developmental biology that has emerged from molecular, cytogenetic, and biochemical studies; new observations by clinicians as well as enhanced diagnostic and prevention capacities; and more accurate and comprehensive epidemiology. By condensing much of the information presented in the first volume of the previous edition, and exercising rigorous editorial control, Drs. Stevenson and Hall and their contributors have managed to update the book while reducing its size to that of a single volume. All clinicians and scientists interested in birth defects, including pediatricians, geneticists, genetic counselors, obstetricians, and pediatric pathologists, will find this book to be an invaluable source of information.
Author: Roger E. Stevenson Publisher: Oxford University Press, USA ISBN: Category : Medical Languages : en Pages : 300
Book Description
Fifty-two authorities have collaborated to produce Human Malformations, a new reference work on birth defects. The coverage is encyclopedic in scope, including all significant human anomalies. Written for physicians and surgeons who evaluate and treat infants and children with birth defects, this work will also serve as a useful resource to all students of human development. This work is divided into two volumes. Volume I contains 15 chapters dealing with the evaluation and understanding of birth defects. Contributors from embryology, experimental teratology, anthropology, genetics, and the medical specialties combine to give a broad perspective. The history of concepts about malformations is discussed, as well as contemporary principles and practice. Volume II (37 chapters) gives detailed accounts of human anomalies arranged by anatomical systems. Each section has the same well-organized format, permitting the reader to easily find information on the incidence, diagnosis, pathogenesis, and causes of human anomalies. The occurrence of each anomaly in various associations and syndromes is documented, often in table form. Each chapter concludes with the natural history, approaches to treatment, and prevention strategies. These two volumes are generously illustrated with 850 photographs, anatomical drawings, and radiographs. Over 8,000 references are cited to permit the reader ready access to the sources of information used to produce this text. Together, the text, illustrations, and bibliographics provide readers with a uniquely valuable and comprehensive resource on human birth defects.
Author: Kenneth Lyons Jones Publisher: Elsevier Health Sciences ISBN: 0323186688 Category : Medical Languages : en Pages : 1018
Book Description
Smith’s Recognizable Patterns of Human Malformation has long been known as the source to consult on multiple malformation syndromes of environmental and genetic etiology as well as recognizable disorders of unknown cause. This esteemed medical reference book provides you with complete and authoritative, yet accessible guidance to help accurately diagnose these human disorders, establish prognoses, and provide appropriate management and genetic counseling. Consult this title on your favorite e-reader, conduct rapid searches, and adjust font sizes for optimal readability. Recognize the visual signs of each environmental and genetic abnormality by consulting more than 1,500 full-color photographs and illustrations, many from the personal collections of Drs. Smith and Jones. Find all the answers you need about normal and abnormal morphogenesis, minor anomalies and their relevance, clinical approaches to specific diagnoses, and normal standards of measurement for the entire spectrum of human malformation syndromes. Efficiently identify genetic disorders in your patients with the inclusion of nearly 20 recently recognized entities/syndromes, as well as new chapters on Microdeletions and Microduplication Syndromes. Available digitally for the first time! You can now access Smith’s as an eBook or online at Expert Consult.
Author: Kenneth Lyons Jones Publisher: Elsevier Health Sciences ISBN: 032363883X Category : Medical Languages : en Pages : 1091
Book Description
Long known as the go-to resource for superbly illustrated, up-to-date coverage in this complex field, Smith's Recognizable Patterns of Human Malformation, 8th Edition, provides a wealth of information on malformation syndromes of environmental and genetic etiology, recognizable disorders of unknown cause, clinical approaches to specific diagnoses, and normal standards of measurement for the entire spectrum of disorders. This award-winning reference is indispensable for clinicians in pediatrics, neonatology, family medicine, and genetics, as well as nurse practitioners and physician assistants—anyone who needs a complete, authoritative, and easy-to-read guide to help accurately diagnose human disorders, establish prognoses, and provide appropriate management and genetic counseling. Includes an easy-to-read description of each condition: Common and occasional abnormalities, natural history, etiology, and references. Opposing pages contain descriptive photographs and line drawings of either an individual with the abnormality or specific features of the abnormality. Contains new coverage of Hennekam Syndrome, Parkes Weber Syndrome, KBG Syndrome, Kosaki Overgrowth, Malan Syndrome, and much more. Arranges disorders based on similarity in overall features, so you can easily navigate to the correct section and compare/contrast similar disorders. Features more than 1,500 full-color photographs and illustrations, many from the personal collections of Drs. Smith and Jones, and others from multiple international collaborators. Provides summarized information in order to understand basic mechanisms of morphogenesis and birth defects and key concepts in genetics and genetic testing—necessary information for counseling patients and parents. Enhanced eBook version included with purchase. Your enhanced eBook allows you to access all of the text, figures, and references from the book on a variety of devices.
Author: John B. Mulliken Publisher: Oxford University Press ISBN: 0199722544 Category : Medical Languages : en Pages : 1139
Book Description
The field of vascular anomalies has grown rapidly in last 25 years. Molecular genetics has led to discovery of genes that cause vascular anomalies. Interventional radiology has become a major contributor to accurate diagnosis and management of previously untreatable disorders. New pharmacologic therapies are under investigation and surgical protocols have been established. Vascular Anomalies: Hemangiomas and Malformations is a comprehensive and interdisciplinary textbook ideal for dermatologists, interventional radiologists, surgical specialists, ophthalmologists, pathologists, geneticists, pediatricians, hematologic-oncologists, and vascular biologists. With a central motif of the biologic dichotomy of vascular tumors and vascular malformations, this book is organized into chapters which address clinical presentation, diagnostic imaging, molecular genetics, pathogenesis, histopathology, and management of vascular anomalies. Generous, full-color images compliment this extensive volume written by three colleagues and their teammates from Children's Hospital Boston and Harvard Medical School, with leading specialists from other centers.
Author: National Research Council Publisher: National Academies Press ISBN: 0309070864 Category : Nature Languages : en Pages : 348
Book Description
Scientific Frontiers in Developmental Toxicology and Risk Assessment reviews advances made during the last 10-15 years in fields such as developmental biology, molecular biology, and genetics. It describes a novel approach for how these advances might be used in combination with existing methodologies to further the understanding of mechanisms of developmental toxicity, to improve the assessment of chemicals for their ability to cause developmental toxicity, and to improve risk assessment for developmental defects. For example, based on the recent advances, even the smallest, simplest laboratory animals such as the fruit fly, roundworm, and zebrafish might be able to serve as developmental toxicological models for human biological systems. Use of such organisms might allow for rapid and inexpensive testing of large numbers of chemicals for their potential to cause developmental toxicity; presently, there are little or no developmental toxicity data available for the majority of natural and manufactured chemicals in use. This new approach to developmental toxicology and risk assessment will require simultaneous research on several fronts by experts from multiple scientific disciplines, including developmental toxicologists, developmental biologists, geneticists, epidemiologists, and biostatisticians.
Author: R.J. McKinlay Gardner Publisher: Oxford University Press ISBN: 019932901X Category : Medical Languages : en Pages : 729
Book Description
Even as classic cytogenetics has given way to molecular karyotyping, and as new deletion and duplication syndromes are identified almost every day, the fundamental role of the genetics clinic remains mostly unchanged. Genetic counselors and medical geneticists explain the "unexplainable," helping families understand why abnormalities occur and whether they're likely to occur again. Chromosome Abnormalities and Genetic Counseling is the genetics professional's definitive guide to navigating both chromosome disorders and the clinical questions of the families they impact. Combining a primer on these disorders with the most current approach to their best clinical approaches, this classic text is more than just a reference; it is a guide to how to think about these disorders, even as our technical understanding of them continues to evolve. Completely updated and still infused with the warmth and voice that have made it essential reading for professionals across medical genetics, this edition of Chromosome Abnormalities and Genetic Counseling represents a leap forward in clinical understanding and communication. It is, as ever, essential reading for the field.