Skeletal Dysplasias

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Bone Dysplasias

Author : Jürgen W. Spranger
Publisher : Oxford University Press
ISBN 13 : 0190626666
Total Pages : 976 pages
Book Rating : 4.1/5 (96 download)

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Book Synopsis Bone Dysplasias by : Jürgen W. Spranger

Download or read book Bone Dysplasias written by Jürgen W. Spranger and published by Oxford University Press. This book was released on 2018-10-25 with total page 976 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.

Taybi and Lachman's Radiology of Syndromes, Metabolic Disorders, and Skeletal Dysplasias

Author : Ralph S. Lachman
Publisher : Mosby
ISBN 13 : 9780323019316
Total Pages : 0 pages
Book Rating : 4.0/5 (193 download)

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Book Synopsis Taybi and Lachman's Radiology of Syndromes, Metabolic Disorders, and Skeletal Dysplasias by : Ralph S. Lachman

Download or read book Taybi and Lachman's Radiology of Syndromes, Metabolic Disorders, and Skeletal Dysplasias written by Ralph S. Lachman and published by Mosby. This book was released on 2007 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt: "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.

Bone Dysplasias

Author : Jürgen W. Spranger
Publisher : Oxford University Press, USA
ISBN 13 : 9780195214741
Total Pages : 306 pages
Book Rating : 4.2/5 (147 download)

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Book Synopsis Bone Dysplasias by : Jürgen W. Spranger

Download or read book Bone Dysplasias written by Jürgen W. Spranger and published by Oxford University Press, USA. This book was released on 2002 with total page 306 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.

Gamut Index of Skeletal Dysplasias

Author : Kazimierz Kozlowski
Publisher : Springer Science & Business Media
ISBN 13 : 1447134923
Total Pages : 223 pages
Book Rating : 4.4/5 (471 download)

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Book Synopsis Gamut Index of Skeletal Dysplasias by : Kazimierz Kozlowski

Download or read book Gamut Index of Skeletal Dysplasias written by Kazimierz Kozlowski and published by Springer Science & Business Media. This book was released on 2012-12-06 with total page 223 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.

Sclerosing Bone Dysplasias

Author : P. Beighton
Publisher : Springer Science & Business Media
ISBN 13 : 144711292X
Total Pages : 193 pages
Book Rating : 4.4/5 (471 download)

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Book Synopsis Sclerosing Bone Dysplasias by : P. Beighton

Download or read book Sclerosing Bone Dysplasias written by P. Beighton and published by Springer Science & Business Media. This book was released on 2012-12-06 with total page 193 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.

Genetics of Bone Biology and Skeletal Disease

Author : Rajesh V. Thakker
Publisher : Academic Press
ISBN 13 : 0128041986
Total Pages : 878 pages
Book Rating : 4.1/5 (28 download)

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Book Synopsis Genetics of Bone Biology and Skeletal Disease by : Rajesh V. Thakker

Download or read book Genetics of Bone Biology and Skeletal Disease written by Rajesh V. Thakker and published by Academic Press. This book was released on 2017-10-31 with total page 878 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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

Fetal and Perinatal Skeletal Dysplasias

Author : Christine M Hall
Publisher : CRC Press
ISBN 13 : 1040005233
Total Pages : 1282 pages
Book Rating : 4.0/5 (4 download)

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Book Synopsis Fetal and Perinatal Skeletal Dysplasias by : Christine M Hall

Download or read book Fetal and Perinatal Skeletal Dysplasias written by Christine M Hall and published by CRC Press. This book was released on 2024-07-30 with total page 1282 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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

Human Malformations and Related Anomalies

Author : Roger E. Stevenson
Publisher : Oxford University Press
ISBN 13 : 019974808X
Total Pages : 1510 pages
Book Rating : 4.1/5 (997 download)

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Book Synopsis Human Malformations and Related Anomalies by : Roger E. Stevenson

Download or read book Human Malformations and Related Anomalies written by Roger E. Stevenson and published by Oxford University Press. This book was released on 2005-10-27 with total page 1510 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.

Abnormal Skeletal Phenotypes

Author : Alessandro Castriota-Scanderbeg
Publisher : Springer Science & Business Media
ISBN 13 : 3540303618
Total Pages : 970 pages
Book Rating : 4.5/5 (43 download)

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Book Synopsis Abnormal Skeletal Phenotypes by : Alessandro Castriota-Scanderbeg

Download or read book Abnormal Skeletal Phenotypes written by Alessandro Castriota-Scanderbeg and published by Springer Science & Business Media. This book was released on 2006-03-20 with total page 970 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.

Atlas of Skeletal Dysplasias

Author : Ruth Wynne-Davies
Publisher :
ISBN 13 :
Total Pages : 668 pages
Book Rating : 4.3/5 (91 download)

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Book Synopsis Atlas of Skeletal Dysplasias by : Ruth Wynne-Davies

Download or read book Atlas of Skeletal Dysplasias written by Ruth Wynne-Davies and published by . This book was released on 1985 with total page 668 pages. Available in PDF, EPUB and Kindle. Book excerpt:

Innovative Medicine

Author : Kazuwa Nakao
Publisher : Springer
ISBN 13 : 4431556516
Total Pages : 330 pages
Book Rating : 4.4/5 (315 download)

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Book Synopsis Innovative Medicine by : Kazuwa Nakao

Download or read book Innovative Medicine written by Kazuwa Nakao and published by Springer. This book was released on 2015-10-13 with total page 330 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book is devoted to innovative medicine, comprising the proceedings of the Uehara Memorial Foundation Symposium 2014. It remains extremely rare for the findings of basic research to be developed into clinical applications, and it takes a long time for the process to be achieved. The task of advancing the development of basic research into clinical reality lies with translational science, yet the field seems to struggle to find a way to move forward. To create innovative medical technology, many steps need to be taken: development and analysis of optimal animal models of human diseases, elucidation of genomic and epidemiological data, and establishment of “proof of concept”. There is also considerable demand for progress in drug research, new surgical procedures, and new clinical devices and equipment. While the original research target may be rare diseases, it is also important to apply those findings more broadly to common diseases. The book covers a wide range of topics and is organized into three complementary parts. The first part is basic research for innovative medicine, the second is translational research for innovative medicine, and the third is new technology for innovative medicine. This book helps to understand innovative medicine and to make progress in its realization.

Radiology of Syndromes, Metabolic Disorders, and Skeletal Dysplasias

Author : Hooshang Taybi
Publisher : Mosby Incorporated
ISBN 13 : 9780815187097
Total Pages : 1135 pages
Book Rating : 4.1/5 (87 download)

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Book Synopsis Radiology of Syndromes, Metabolic Disorders, and Skeletal Dysplasias by : Hooshang Taybi

Download or read book Radiology of Syndromes, Metabolic Disorders, and Skeletal Dysplasias written by Hooshang Taybi and published by Mosby Incorporated. This book was released on 1996 with total page 1135 pages. Available in PDF, EPUB and Kindle. Book excerpt: Intended for the practitioner and student, this clinical radiologic reference is one of the most widely used by pediatric radiologists today. This edition features an expanded Gamuts section, which presents differential diagnoses of various clinical and radiologic symptoms and signs. Genetic information on syndromes and disorders is also included.

Gamut Index of Skeletal Dysplasias

Author : K. Kozlowski
Publisher : Springer Science & Business Media
ISBN 13 : 144713320X
Total Pages : 204 pages
Book Rating : 4.4/5 (471 download)

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Book Synopsis Gamut Index of Skeletal Dysplasias by : K. Kozlowski

Download or read book Gamut Index of Skeletal Dysplasias written by K. Kozlowski and published by Springer Science & Business Media. This book was released on 2012-12-06 with total page 204 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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 and accuracy. We believe that our objective will be achieved by means of the 'gamut' format which we have employed. In Section 1 we have addressed the problem of diagnosis of generalized skeletal abnormalities, while Section 2 is based upon an anatomical or regional approach. Lists of conditions are given in order of prevalence or importance. Our gamut has been deliberately simplified and only the most important and easily recognized radiographic stigmata have been taken into account. Pertinent clinical, radiographic, and genetic information for each syndromic entity is provided in Section 3, where the disorders are placed in alphabetical order. This section also contains relevant references which are as up to date as possible.

Bone Dysplasias of Infancy

Author : B. J. Cremin
Publisher : Springer Science & Business Media
ISBN 13 : 3642483070
Total Pages : 236 pages
Book Rating : 4.6/5 (424 download)

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Book Synopsis Bone Dysplasias of Infancy by : B. J. Cremin

Download or read book Bone Dysplasias of Infancy written by B. J. Cremin and published by Springer Science & Business Media. This book was released on 2012-12-06 with total page 236 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.

The Growing Spine

Author : Behrooz A. Akbarnia
Publisher : Springer Science & Business Media
ISBN 13 : 3540852077
Total Pages : 624 pages
Book Rating : 4.5/5 (48 download)

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Book Synopsis The Growing Spine by : Behrooz A. Akbarnia

Download or read book The Growing Spine written by Behrooz A. Akbarnia and published by Springer Science & Business Media. This book was released on 2010-12-31 with total page 624 pages. Available in PDF, EPUB and Kindle. Book excerpt: Spinal disorders in very young children may be caused by a variety of conditions. The treatment of such conditions is often challenging due to the age of the patient and the progressive nature of the deformity. There also may be associated problems such as congenital anomalies, respiratory insufficiency, and neurological problems. Depending on the etiology of the deformity, these children are often cared for by multiple specialists including pediatricians, pediatric orthopaedists or orthopaedic spine surgeons, neurologists, pediatric surgeons, pediatric neurosurgeons, oncologists, and/or pulmonologists. Health professionals in all of the mentioned disciplines are involved in the management of these patients, which is why compiling a comprehensive textbook that is not limited to orthopedic specialists is essential. This textbook will effectively help to standardize the care of these patients. Furthermore, other professionals such as nurses, physical therapists and healthcare professionals in training are usually not familiar with these conditions and are in need of a reference book to consult when caring for children with spinal deformities.

Connective Tissue and Its Heritable Disorders

Author : Peter M. Royce
Publisher : John Wiley & Sons
ISBN 13 : 0471461172
Total Pages : 1201 pages
Book Rating : 4.4/5 (714 download)

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Book Synopsis Connective Tissue and Its Heritable Disorders by : Peter M. Royce

Download or read book Connective Tissue and Its Heritable Disorders written by Peter M. Royce and published by John Wiley & Sons. This book was released on 2003-04-14 with total page 1201 pages. Available in PDF, EPUB and Kindle. Book excerpt: The Second Edition of Connective Tissue and Its Heritable Disorders: Molecular, Genetic, and Medical Aspects is the definitive reference text in its field, with over 40% more pages on the nature, diagnosis, and treatment of disease than its predecessor. Collecting new research on disorders detailed in the first edition as well as on those previously excluded, editors Peter Royce and Beat Steinmann provide the most up-to-date clinical and scientific information for medical specialists treating affected individuals. Features of this revised and updated volume include detailed reviews of the clinical diagnosis, mode of inheritance, risk of recurrence, and prenatal diagnosis of each inherited connective tissue disorder; a thorough description of the morphology of connective tissues; a completely updated and revised section on the biology of the extracellular matrix; and the addition of syndromes such as craniosyntosis, and disorders of sulfate metabolism.

Ortner's Identification of Pathological Conditions in Human Skeletal Remains

Author : Jane Buikstra
Publisher : Academic Press
ISBN 13 : 0128099011
Total Pages : 859 pages
Book Rating : 4.1/5 (28 download)

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Book Synopsis Ortner's Identification of Pathological Conditions in Human Skeletal Remains by : Jane Buikstra

Download or read book Ortner's Identification of Pathological Conditions in Human Skeletal Remains written by Jane Buikstra and published by Academic Press. This book was released on 2019-01-29 with total page 859 pages. Available in PDF, EPUB and Kindle. Book excerpt: Ortner's Identification of Pathological Conditions in Human Skeletal Remains, Third Edition, provides an integrated and comprehensive treatment of the pathological conditions that affect the human skeleton. As ancient skeletal remains can reveal a treasure trove of information to the modern orthopedist, pathologist, forensic anthropologist, and radiologist, this book presents a timely resource. Beautifully illustrated with over 1,100 photographs and drawings, it provides an essential text and material on bone pathology, thus helping improve the diagnostic ability of those interested in human dry bone pathology. Presents a comprehensive review of the skeletal diseases encountered in archaeological human remains Includes more than 1100 photographs and line drawings illustrating skeletal diseases, including both microscopic and gross features Based on extensive research on skeletal paleopathology in many countries Reviews important theoretical issues on how to interpret evidence of skeletal disease in archaeological human populations