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Author: Jürgen W. Spranger
Publisher: Oxford University Press, USA
ISBN: 0190626658
Category : Medical
Languages : en
Pages : 929
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Book Description
The definitive guide to genetic bone disorders, now revised and expanded with glossy photographs and radiographs.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 prognosticand 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: Jürgen W. Spranger
Publisher: Oxford University Press, USA
ISBN: 0190626658
Category : Medical
Languages : en
Pages : 929
Get Book
Book Description
The definitive guide to genetic bone disorders, now revised and expanded with glossy photographs and radiographs.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 prognosticand 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: Jürgen W. Spranger
Publisher: Oxford University Press, USA
ISBN: 9780195214741
Category : Bone Diseases, Developmental
Languages : en
Pages : 306
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Book Description
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: Rajesh V. Thakker
Publisher: Academic Press
ISBN: 0128041986
Category : Medical
Languages : en
Pages : 878
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Book Description
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: Ralph S. Lachman
Publisher: Mosby
ISBN: 9780323019316
Category : Bones
Languages : en
Pages : 0
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Book Description
"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: P. Beighton
Publisher: Springer Science & Business Media
ISBN: 144711292X
Category : Medical
Languages : en
Pages : 193
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Book Description
Much confusion exists in the accurate identification and classification of the many disorders in infancy which affect the skeleton by producing sclerosing lesions throughout the entire skeleton or in selected areas. A scholarly effort to bring order into this confusing field must be welcomed. Professors Beighton and Cremin have skillfully defined the problem and concisely yet thoroughly have identified the various sclerosing dysplasias. They bring to this task a wealth of clinical experience in their many years in the Departments of Radiology at the University of Cape Town Medical School and the Groote Schuur and Red Cross Children's Hospitals in Cape Town, South Africa. The authors also have had available data from the University of Cape Town Skeletal Dysplasia Registry. Professors Beighton and Cremin have used as a basis for their treatise the Paris Nomenclature (the modified version of 1977). This monograph is a felicitous combination of a working atlas and a scholarly exposition of the various sclerosing bone dysplasias, considering in detail eighteen major entities adopted from the Paris classification. Other disorders which present with osteosclerosis are also described. These include Caffey disease, oculodento-osseous dysplasia, central osteosclerosis with bamboo hair, fluorosis, osteosclerosis associated with renal disease and mastocytosis.
Author: Christine M Hall
Publisher: CRC Press
ISBN: 1040005233
Category : Medical
Languages : en
Pages : 1271
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Book Description
This atlas is intended to give obstetricians, paediatricians, neonatologists, radiologists, molecular and clinical geneticists and anatomo-pathologists, a thorough insight into conditions (and variants) of skeletal dysplasias. Clinical and imaging findings are properly illustrated, enriched by updated genetic information. This acclaimed text returns in a revised form, with updated material, particularly on the new knowledge surrounding the genetic basis and mechanism for the various skeletal dysplasias. No clinician dealing with fetal or neonatal skeletal diagnosis or treatment will want to be without access to the wealth of illustrations and detail condensed here. • Presents a clear and consistent rubric for approaching approximately 150 types of skeletal dysplasias • Meets the needs of clinical gynaecologists, obstetricians, paediatricians, radiologists and geneticists • Offers an essential, concise resource for the diagnosis of skeletal dysplasias which present prenatally and perinatally
Author: Francis H. Glorieux
Publisher: Academic Press
ISBN: 0123820405
Category : Medical
Languages : en
Pages : 885
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Book Description
Pediatric osteology, a medical specialty that has come of age, has contributed to the understanding of adult bone diseases as well. This second edition reference updates the 2003 edition with more emphasis on management as well as new and revised contributions. Thirty chapters present basic information regarding bone development, tools and techniques for evaluation (including a new chapter on radiographic imaging), and the specifics of various diseases. The three editors are affiliated as follows: Francis H. Glorieux (McGill U., Canada), John M. Pettifor (Chir Hani Baragwanath Hospital, South Africa), and Harald Juppner (Harvard Medical School, US). Academic Press is an imprint of Elsevier. Annotation ©2012 Book News, Inc., Portland, OR (booknews.com).
Author: Adam E. M. Eltorai
Publisher: Springer
ISBN: 3319525670
Category : Medical
Languages : en
Pages : 811
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Book Description
This quick-reference guide is the first book written specifically for the many third- and fourth-year medical students rotating on an orthopedic surgery service. Organized anatomically, it focuses on the diagnosis and management of the most common pathologic entities. Each chapter covers history, physical examination, imaging, and common diagnoses. For each diagnosis, the book sets out the typical presentation, options for non-operative and operative management, and expected outcomes. Chapters include key illustrations, quick-reference charts, tables, diagrams, and bulleted lists. Each chapter is co-authored by a senior resident or fellow and an established academic physician and is concise enough to be read in two or three hours. Students can read the text from cover to cover to gain a general foundation of knowledge that can be built upon when they begin their rotation, then use specific chapters to review a sub-specialty before starting a new rotation or seeing a patient with a sub-specialty attending. Practical and user-friendly, Orthopedic Surgery Clerkship is the ideal, on-the-spot resource for medical students and practitioners seeking fast facts on diagnosis and management. Its bullet-pointed outline format makes it a perfect quick-reference, and its content breadth covers the most commonly encountered orthopedic problems in practice.
Author: Kazimierz Kozlowski
Publisher: Springer Science & Business Media
ISBN: 1447134923
Category : Medical
Languages : en
Pages : 223
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Book Description
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 listings. The abnormalities are carefully subdivided to allow a logical progres sion of thought and discovery; the entries include a variety of non dysplastic conditions which come into the differential diagnosis and there are many short interpolations which provide additional help to the searcher in problem areas. You will not find these fea tures in a computer database; they are the product of thoughtful ness and vast knowledge of the conditions in their clinical contexts. The process is further advanced by the series of summaries of the dysplasias and other syndromes; this section contains all of the con ditions listed in the International Nomenclature, plus others, and provides confirmation or exclusion of possible diagnoses and appropriate suggestions for further reading. This new edition will add significantly to the well-deserved pop ularity of the first edition.
Author: B. J. Cremin
Publisher: Springer Science & Business Media
ISBN: 3642483070
Category : Medical
Languages : en
Pages : 109
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Book Description
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 recognition of a large number of these disorders, thanks to co-operation between paediatricians, radiologists, geneticists and biochemists. Not only maya reasonably accurate prognosis be offered for the affected child in many instances, but, almost of greater value, genetic counselling concerning the chance of subsequent offspring being similarly affected has become available to parents. Most radiologists have little opportunity of becoming familiar with this rapidly widening field of diagnosis, so that the occasional case which may be encountered is likely to engender diagnostic difficulty. This Atlas should facilitate greatly the solution of the problem. It has been prepared by Professor CREMIN, an outstanding paediatric radiologist whose work has been known and admired by me for many years, in close collaboration with his colleague Professor BEIGHTON, a geneticist of great distinction.
