Skeletal Dysplasias Congenital Malformations
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| Author | : Jürgen W. Spranger |
| Publisher | : Oxford University Press, USA |
| Total Pages | : 929 |
| Release | : 2018 |
| Genre | : Medical |
| ISBN | : 0190626658 |
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.
| Author | : Wilfred C. G. Peh |
| Publisher | : Springer |
| Total Pages | : 960 |
| Release | : 2017-08-11 |
| Genre | : Medical |
| ISBN | : 3319534963 |
This superbly illustrated book offers comprehensive and systematic coverage of the pitfalls that may arise during musculoskeletal imaging, whether as a consequence of the imaging technique itself or due to anatomical variants or particular aspects of disease. The first section is devoted to technique-specific artifacts encountered when using different imaging modalities and covers the entire range of advanced methods, including high-resolution ultrasonography, computed tomography, magnetic resonance imaging and positron emission tomography. Advice is provided on correct imaging technique. In the second section, pitfalls in imaging interpretation that may occur during the imaging of trauma to various structures and of the diseases affecting these structures are described. Misleading imaging appearances in such pathologies as inflammatory arthritides, infections, metabolic bone lesions, congenital skeletal dysplasis, tumors and tumor-like conditions are highlighted, and normal variants are also identified. Pitfalls in Musculoskeletal Radiology will be an invaluable source of information for the practicing radiologist, facilitating recognition of pitfalls of all types and avoidance of diagnostic errors and misinterpretations, with their medicolegal implications.
| Author | : Ralph S. Lachman |
| Publisher | : Mosby |
| Total Pages | : 0 |
| Release | : 2007 |
| Genre | : Bones |
| ISBN | : 9780323019316 |
"Revised to reflect the latest advances, the 5th edition of this book: brings you new and expanded coverage of CT, MRI, and ultrasonographic manifestations; provides several illustrative examples of the evolution of a syndrome from infancy to adult life; includes more than 100 new skeletal dysplasias, covering everything from their frequency and clinical and radiological manifestations ... to modes of inheritance and differential diagnosis; presents genetic information on syndromes and disorders, while also covering a number of non-genetic entities; features an expanded Chromosome disorders section that includes guidance on when to test for these conditions; includes a section on Gamuts that helps you look up conditions based on individual traits; and offers an updated Brachydactyly section for the latest guidance in addressing these isolated disorders." "Short, concise descriptions of entities help you glean the most information in the least time, and an alphabetical organization expedites access to the specific information you need for common and uncommon conditions."--Résumé de l'éditeur.
| Author | : David Sutton |
| Publisher | : Springer Science & Business Media |
| Total Pages | : 838 |
| Release | : 2012-12-06 |
| Genre | : Medical |
| ISBN | : 1447117557 |
In recent decades imaging has proved one of the most rapidly expanding areas of medicine. The present day trainees entering radiology are no longer trained by radiologists who cover and are well informed on most aspects of their specialty as was the case with previous generations. Instead they encounter a confusing array of subspecialists divided both by systems and by techniques. The system specialists include neuroradiologists. vascular radiologists. gastrointestinal radiologists. chest radiologists. and skeletal radiologists. Technique specialists include experts in nuclear medicine. ultrasound. computed tomography and magnetic resonance. and there are subspecialists in both groups. not to mention others like pediatric radiologists who fit into neither classification. It is our experience that this plethora of experts each with his own individual approach is bewildering and intimidating to the novice radiologist. The numerous monographs on individual subjects and tech niques and the large textbooks so valuable to the more advanced radiologist are also confusing and unhelp ful to the new recruit. It was for these reasons that we decided to embark on this new Short Textbook. The aim was to produce a concise and integrated volume which could provide the beginner with a balanced and realistic view of the true place of different imaging techniques in current practice. Details of technique are generally excluded; most will be inevitably absorbed with increasing practical experience. The emphasis throughout is on clinical usage. and the relative and often changing importance of different methods in specific clinical contexts.
| Author | : Roger E. Stevenson |
| Publisher | : Oxford University Press |
| Total Pages | : 1510 |
| Release | : 2005-10-27 |
| Genre | : Medical |
| ISBN | : 019974808X |
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 | : Rajesh V. Thakker |
| Publisher | : Academic Press |
| Total Pages | : 880 |
| Release | : 2017-10-31 |
| Genre | : Science |
| ISBN | : 0128041986 |
Genetics of Bone Biology and Skeletal Disease, Second Edition, is aimed at students of bone biology and genetics and includes general introductory chapters on bone biology and genetics. More specific disease orientated chapters comprehensively summarize the clinical, genetic, molecular, animal model, molecular pathology, diagnostic, counseling, and treatment aspects of each disorder. The book is organized into five sections that each emphasize a particular theme, general background to bone biology, general background to genetics and epigenetics, disorders of bone and joint, parathyroid and related disorders, and vitamin D and renal disorders. The first section is specifically devoted to providing an overview of bone biology and structure, joint and cartilage biology, principles of endocrine regulation of bone, and the role of neuronal regulation and energy homeostasis. The second section reviews the principles and progress of medical genetics and epigenetics related to bone disease, including genome-wide association studies (GWAS), genomic profiling, copy number variation, prospects of gene therapy, pharmacogenomics, genetic testing and counseling, as well as the generation and utilizing of mouse models. The third section details advances in the genetics and molecular biology of bone and joint diseases, both monogenic and polygenic, as well as skeletal dysplasias, and rarer bone disorders. The fourth section highlights the central role of the parathyroids in calcium and skeletal homeostasis by reviewing the molecular genetics of: hyperparathyroidism, hypoparathyrodism, endocrine neoplasias, and disorders of the PTH and calcium-sensing receptors. The fifth section details molecular and cellular advances across associated renal disorders such as vitamin D and rickets. - Identifies and analyzes the genetic basis of bone disorders in humans and demonstrates the utility of mouse models in furthering the knowledge of mechanisms and evaluation of treatments - Demonstrates how the interactions between bone and joint biology, physiology, and genetics have greatly enhanced the understanding of normal bone function as well as the molecular pathogenesis of metabolic bone disorders - Summarizes the clinical, genetic, molecular, animal model, molecular pathology, diagnostic, counseling, and treatment aspects of each disorder
| Author | : Jürgen W. Spranger |
| Publisher | : Oxford University Press, USA |
| Total Pages | : 306 |
| Release | : 2002 |
| Genre | : Language Arts & Disciplines |
| ISBN | : 9780195214741 |
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 sequenced to illustrate both the degree of variability of a given disorder and its changs with age. This book is designed for physicians involved in the evaluation and treatment of patients with skeletal dysplasias, including radiologists, medical geneticists, pediatricians, and orthopedic surgeons. Its main goal is to assist in the diagnosis of specific conditions and the care of affected individuals. Though mutations of specific genes can produce dysplasias with very different phenotypes and prognoses, the primarily clinical aim of this book dictated a phenotypic classification in general, with compromises on etiologic grounds where necessary. Since the attempt to diagnose a skeletal dysplasia from single signs, alone or in cominations, is fraught with errors, the authors focus on basic patterns of skeletal abnormalities.
| Author | : Alessandro Castriota-Scanderbeg |
| Publisher | : Springer Science & Business Media |
| Total Pages | : 970 |
| Release | : 2006-03-20 |
| Genre | : Medical |
| ISBN | : 3540303618 |
Taking a symptom-oriented approach, this book focuses on the radiographic changes of malformation syndromes and skeletal dysplasias. Its clear structure makes it an essential, practical guide for radiologists, geneticists, and pediatricians.
| Author | : G. Pilu |
| Publisher | : Taylor & Francis |
| Total Pages | : 168 |
| Release | : 1999-06-15 |
| Genre | : Medical |
| ISBN | : 9781841849188 |
Ultrasound is the main diagnostic tool in the prenatal detection of congenital abnormalities. The Fetal Medicine Foundation has recognized the importance of this tool by setting up a program of training and certification to help establish high standards of scanning on an international scale. Diagnosis of Fetal Abnormalities: The 18-23-Week Scan provides the basis of learning for the theoretical component of this program. The book is a complete, authoritative clinician's textbook on using ultrasound in the prenatal detection of congenital abnormalities. It summarizes the prevalence, etiology, prenatal sonographic features and prognosis for both common and rare fetal abnormalities.
| Author | : Albert L. Baert |
| Publisher | : Springer |
| Total Pages | : 1965 |
| Release | : 2008-01-14 |
| Genre | : Medical |
| ISBN | : 9783540358602 |
The aim of this comprehensive encyclopedia is to provide detailed information on diagnostic radiology contributing to the broad field of imaging. The simple A to Z format provides easy access to relevant information. Extensive cross references between keywords and related articles enable efficient searches in a user-friendly manner. The wide range of entries will provide basic and clinical scientists in academia, practice and industry with valuable information about the field of diagnostic imaging. Those in related fields will also benefit from the important and relevant information on the most recent developments. Please note that this publication is available as print only or online only or print + online set. Save 75% of the online list price when purchasing the bundle. For more information on the online version please type the publication title into the search box above, then click on the eReference version in the results list.
