Bone Dysplasias

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Bone Dysplasias

Jürgen W. Spranger,Paula W. Brill,Christine Hall,Gen Nishimura,Andrea Superti-Furga,Sheila Unger

Author : Jürgen W. Spranger,Paula W. Brill,Christine Hall,Gen Nishimura,Andrea Superti-Furga,Sheila Unger
Publisher : Oxford University Press
Page : 976 pages
File Size : 54,9 Mb
Release : 2018-10-25
Category : Medical
ISBN : 9780190626662

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Bone Dysplasias by Jürgen W. Spranger,Paula W. Brill,Christine Hall,Gen Nishimura,Andrea Superti-Furga,Sheila Unger Pdf

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.

Bone Dysplasias

Jürgen W. Spranger,Andrea Superti-Furga,Sheila Unger

Author : Jürgen W. Spranger,Andrea Superti-Furga,Sheila Unger
Publisher : Oxford University Press, USA
Page : 929 pages
File Size : 47,6 Mb
Release : 2018
Category : Medical
ISBN : 9780190626655

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Bone Dysplasias by Jürgen W. Spranger,Andrea Superti-Furga,Sheila Unger Pdf

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.

Bone Dysplasias

Jürgen W. Spranger,Paula W. Brill,Andrew K. Poznanski

Author : Jürgen W. Spranger,Paula W. Brill,Andrew K. Poznanski
Publisher : Oxford University Press, USA
Page : 306 pages
File Size : 46,7 Mb
Release : 2002
Category : Bone Diseases, Developmental
ISBN : 0195214749

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Bone Dysplasias by Jürgen W. Spranger,Paula W. Brill,Andrew K. Poznanski Pdf

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.

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

Ralph S. Lachman

Author : Ralph S. Lachman
Publisher : Mosby
Page : 0 pages
File Size : 43,9 Mb
Release : 2007
Category : Bones
ISBN : 0323019315

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

"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.

Fetal and Perinatal Skeletal Dysplasias

Christine M Hall,Amaka C Offiah,Francesca Forzano,Mario Lituania,Gen Nishimura,Valerie Cormier-Daire

Author : Christine M Hall,Amaka C Offiah,Francesca Forzano,Mario Lituania,Gen Nishimura,Valerie Cormier-Daire
Publisher : CRC Press
Page : 1271 pages
File Size : 45,9 Mb
Release : 2024-05-20
Category : Medical
ISBN : 9781040005231

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Fetal and Perinatal Skeletal Dysplasias by Christine M Hall,Amaka C Offiah,Francesca Forzano,Mario Lituania,Gen Nishimura,Valerie Cormier-Daire Pdf

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

Genetics of Bone Biology and Skeletal Disease

Rajesh V. Thakker,Michael P. Whyte,John Eisman,Takashi Igarashi

Author : Rajesh V. Thakker,Michael P. Whyte,John Eisman,Takashi Igarashi
Publisher : Academic Press
Page : 878 pages
File Size : 44,6 Mb
Release : 2017-10-31
Category : Medical
ISBN : 9780128041987

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Genetics of Bone Biology and Skeletal Disease by Rajesh V. Thakker,Michael P. Whyte,John Eisman,Takashi Igarashi Pdf

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

Sclerosing Bone Dysplasias

P. Beighton,B. J. Cremin

Author : P. Beighton,B. J. Cremin
Publisher : Springer Science & Business Media
Page : 193 pages
File Size : 50,6 Mb
Release : 2012-12-06
Category : Medical
ISBN : 9781447112921

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Sclerosing Bone Dysplasias by P. Beighton,B. J. Cremin Pdf

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.

Pediatric Bone

Francis H. Glorieux,John M. Pettifor,Harald Jüppner

Author : Francis H. Glorieux,John M. Pettifor,Harald Jüppner
Publisher : Academic Press
Page : 885 pages
File Size : 43,8 Mb
Release : 2011-09-28
Category : Medical
ISBN : 9780123820402

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Pediatric Bone by Francis H. Glorieux,John M. Pettifor,Harald Jüppner Pdf

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).

Gamut Index of Skeletal Dysplasias

Kazimierz Kozlowski,Peter Beighton

Author : Kazimierz Kozlowski,Peter Beighton
Publisher : Springer Science & Business Media
Page : 223 pages
File Size : 50,9 Mb
Release : 2012-12-06
Category : Medical
ISBN : 9781447134923

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Gamut Index of Skeletal Dysplasias by Kazimierz Kozlowski,Peter Beighton Pdf

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.

Radiology of Syndromes, Metabolic Disorders, and Skeletal Dysplasias

Hooshang Taybi,Ralph S. Lachman

Author : Hooshang Taybi,Ralph S. Lachman
Publisher : Mosby Incorporated
Page : 1135 pages
File Size : 47,5 Mb
Release : 1996
Category : Medical
ISBN : 0815187092

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Radiology of Syndromes, Metabolic Disorders, and Skeletal Dysplasias by Hooshang Taybi,Ralph S. Lachman Pdf

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.

Bone Dysplasias of Infancy

B. J. Cremin,P. Beighton

Author : B. J. Cremin,P. Beighton
Publisher : Springer Science & Business Media
Page : 109 pages
File Size : 55,8 Mb
Release : 2012-12-06
Category : Medical
ISBN : 9783642483073

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Bone Dysplasias of Infancy by B. J. Cremin,P. Beighton Pdf

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.

Calcium and Bone Disorders in Children and Adolescents

J. Allgrove,N.J. Shaw

Author : J. Allgrove,N.J. Shaw
Publisher : Karger Medical and Scientific Publishers
Page : 434 pages
File Size : 55,9 Mb
Release : 2015-06-11
Category : Medical
ISBN : 9783318054675

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Calcium and Bone Disorders in Children and Adolescents by J. Allgrove,N.J. Shaw Pdf

There has been a rapid expansion of knowledge in the field of paediatric calcium and bone disorders over the past twenty years. Advances have been made in the underlying genetic basis for many conditions in conjunction with progress in bone density and geometry imaging and the development of new treatment options. The 2nd revised edition of ‘Calcium and Bone Disorders in Children and Adolescents’ presents up-to-date information on many aspects included in the 1st edition such as the physiology, pathology, diagnosis and management of numerous conditions including a chapter of case histories illustrating clinical aspects. New chapters on skeletal dysplasias, the genetics of osteoporosis, radiological imaging of bone and a practical approach to a child with recurrent fractures are included. Providing a comprehensive update, this book is a useful clinical resource for paediatricians and specialists in endocrinology, metabolic bone disease, nephrology, rheumatology, radiology, orthopaedics and clinical genetics who may be faced with a child with a calcium and/or bone disorder.

Hereditary Bone and Joint Diseases in the Dog

Joe P. Morgan,Alida Wind,Autumn P. Davidson

Author : Joe P. Morgan,Alida Wind,Autumn P. Davidson
Publisher : Schlütersche
Page : 334 pages
File Size : 42,5 Mb
Release : 2000
Category : Medical
ISBN : 3877065481

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Hereditary Bone and Joint Diseases in the Dog by Joe P. Morgan,Alida Wind,Autumn P. Davidson Pdf

This book provides unique material that goes far beyond a description of bone and joint disorders alone. Each chapter provides information on the history, pathogenesis, diagnosis (physical and radiographic), therapy and prognosis of a particular canine skeletal disease as well as how the disease will affect the dog's life. The text covers all clinically relevant physical regions in the dog, eg, shoulder, elbow, hip, stifle and tarsus, and presents a group of actual, clinical osteochondrosis cases involving different anatomical locations. The authors address the importance of selection of dogs for breeding, including changes in breed appearance and disease propensity and the effect of high-energy diets in fast-growing animals. Discussion includes the impact of a lifetime of pain for the affected dog and the treatment expense for clients, yet provides steps that help the owner curb the progressive aspects of bone or joint diseases and manage the animal's discomfort. In daily practice client questions about skeletal disorders are routine. This remarkable, instructional text will provide answers, incidence figures, advice about surgery and timing, and honest analyses of treatment failures and successes. Here is a fresh look at OCD, dysplasias and other bone diseases, with realistic assessments and positive directives for pet care and client support. Published by Schluetersche, Germany and distributed by Manson Publishing .

Human Malformations and Related Anomalies

Roger E. Stevenson,Judith G. Hall

Author : Roger E. Stevenson,Judith G. Hall
Publisher : Oxford University Press
Page : 1510 pages
File Size : 40,8 Mb
Release : 2005-10-27
Category : Medical
ISBN : 9780199748082

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Human Malformations and Related Anomalies by Roger E. Stevenson,Judith G. Hall Pdf

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.

Innovative Medicine

Kazuwa Nakao,Nagahiro Minato,Shinji Uemoto

Author : Kazuwa Nakao,Nagahiro Minato,Shinji Uemoto
Publisher : Springer
Page : 330 pages
File Size : 46,5 Mb
Release : 2015-10-13
Category : Science
ISBN : 9784431556510

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Innovative Medicine by Kazuwa Nakao,Nagahiro Minato,Shinji Uemoto Pdf

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.

Bone Dysplasias

Bone Dysplasias by Jürgen W. Spranger,Paula W. Brill,Christine Hall,Gen Nishimura,Andrea Superti-Furga,Sheila Unger Pdf

Bone Dysplasias by Jürgen W. Spranger,Andrea Superti-Furga,Sheila Unger Pdf

Bone Dysplasias by Jürgen W. Spranger,Paula W. Brill,Andrew K. Poznanski Pdf

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

Fetal and Perinatal Skeletal Dysplasias by Christine M Hall,Amaka C Offiah,Francesca Forzano,Mario Lituania,Gen Nishimura,Valerie Cormier-Daire Pdf

Genetics of Bone Biology and Skeletal Disease by Rajesh V. Thakker,Michael P. Whyte,John Eisman,Takashi Igarashi Pdf

Sclerosing Bone Dysplasias by P. Beighton,B. J. Cremin Pdf

Pediatric Bone by Francis H. Glorieux,John M. Pettifor,Harald Jüppner Pdf

Gamut Index of Skeletal Dysplasias by Kazimierz Kozlowski,Peter Beighton Pdf

Radiology of Syndromes, Metabolic Disorders, and Skeletal Dysplasias by Hooshang Taybi,Ralph S. Lachman Pdf

Bone Dysplasias of Infancy by B. J. Cremin,P. Beighton Pdf

Calcium and Bone Disorders in Children and Adolescents by J. Allgrove,N.J. Shaw Pdf

Hereditary Bone and Joint Diseases in the Dog by Joe P. Morgan,Alida Wind,Autumn P. Davidson Pdf

Human Malformations and Related Anomalies by Roger E. Stevenson,Judith G. Hall Pdf

Innovative Medicine by Kazuwa Nakao,Nagahiro Minato,Shinji Uemoto Pdf

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