Bone Dysplasias

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Author :
Publisher : Oxford University Press, USA
ISBN 13 : 0190626658
Total Pages : 929 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, USA. This book was released on 2018 with total page 929 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.

Pediatric Bone

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Author :
Publisher : Academic Press
ISBN 13 : 0123820405
Total Pages : 885 pages
Book Rating : 4.1/5 (238 download)

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Book Synopsis Pediatric Bone by : Francis H. Glorieux

Download or read book Pediatric Bone written by Francis H. Glorieux and published by Academic Press. This book was released on 2011-09-28 with total page 885 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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).

Bone Dysplasias of Infancy

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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.

Bone Dysplasias

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Author :
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.

Musculoskeletal Diseases 2021-2024

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Publisher : Springer Nature
ISBN 13 : 3030712818
Total Pages : 293 pages
Book Rating : 4.0/5 (37 download)

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Book Synopsis Musculoskeletal Diseases 2021-2024 by : Juerg Hodler

Download or read book Musculoskeletal Diseases 2021-2024 written by Juerg Hodler and published by Springer Nature. This book was released on 2021 with total page 293 pages. Available in PDF, EPUB and Kindle. Book excerpt: This open access book focuses on imaging of the musculoskeletal diseases. Over the last few years, there have been considerable advances in this area, driven by clinical as well as technological developments. The authors are all internationally renowned experts in their field. They are also excellent teachers, and provide didactically outstanding chapters. The book is disease-oriented and covers all relevant imaging modalities, with particular emphasis on magnetic resonance imaging. Important aspects of pediatric imaging are also included. IDKD books are completely re-written every four years. As a result, they offer a comprehensive review of the state of the art in imaging. The book is clearly structured with learning objectives, abstracts, subheadings, tables and take-home points, supported by design elements to help readers easily navigate through the text. As an IDKD book, it is particularly valuable for general radiologists, radiology residents, and interventional radiologists who want to update their diagnostic knowledge, and for clinicians interested in imaging as it relates to their specialty.

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

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Author :
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.

Genetics of Bone Biology and Skeletal Disease

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Publisher : Academic Press
ISBN 13 : 0128041986
Total Pages : 880 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 880 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

Cassidy and Allanson's Management of Genetic Syndromes

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Publisher : John Wiley & Sons
ISBN 13 : 1119432677
Total Pages : 1104 pages
Book Rating : 4.1/5 (194 download)

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Book Synopsis Cassidy and Allanson's Management of Genetic Syndromes by : John C. Carey

Download or read book Cassidy and Allanson's Management of Genetic Syndromes written by John C. Carey and published by John Wiley & Sons. This book was released on 2021-01-27 with total page 1104 pages. Available in PDF, EPUB and Kindle. Book excerpt: MANAGEMENT OF GENETIC SYNDROMES THE MOST RECENT UPDATE TO ONE OF THE MOST ESSENTIAL REFERENCES ON MEDICAL GENETICS Cassidy and Allanson’s Management of Genetic Syndromes, Fourth Edition is the latest version of a classic text in medical genetics. With newly covered disorders and cutting-edge, up-to-date information, this resource remains the most crucial reference on the management of genetic syndromes in the field of medical genetics for students, clinicians, caregivers, and researchers. The fourth edition includes current information on the identification of genetic syndromes (including newly developed diagnostic criteria), the genetic basis (including diagnostic testing), and the routine care and management for more than 60 genetic disorders. Written by experts, each chapter includes sections on: Incidence Diagnostic criteria Etiology, pathogenesis and genetics Diagnostic testing Differential diagnosis Manifestations and Management (by system) The book focuses on genetic syndromes, primarily those involving developmental disabilities and congenital defects. The chapter sections dealing with Manifestations and Management represents the centerpiece of each entry and is unmatched by other genetic syndrome references. Management of Genetic Syndromes is perfect for medical geneticists, genetic counselors, primary care physicians and all healthcare professionals seeking to stay current on the routine care and management of individuals with genetic disorders.

Questions from NeoReviews

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Publisher :
ISBN 13 : 9781610023986
Total Pages : 0 pages
Book Rating : 4.0/5 (239 download)

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Book Synopsis Questions from NeoReviews by : Henry C. Lee

Download or read book Questions from NeoReviews written by Henry C. Lee and published by . This book was released on 2020 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt: Enhance your knowledge of neonatal-perinatal medicine and/or study for Neonatal-Perinatal Medicine board certification or recertification with this new study guide from the editors of NeoReviews. This new guide includes more than 1,200 questions previously published in NeoReviews from January 2007 to December 2017. Each question is followed by a short explanation of the correct answer with references, including the original article. Chapters include Cardiology Dermatology Endocrinology ENT and Ophthalmology Fluids, Electrolytes, Nutrition Gastrointestinal Genetics and Inborn Errors of Metabolism Hematology/Oncology Immunology Infectious Diseases Maternal-Fetal Medicine Neonatal Resuscitation Neurology Renal Respiratory Statistics, Research, Health Services, and Ethics

Human Malformations and Related Anomalies

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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.

Pathology of Bone and Joint Disorders Print and Online Bundle

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Publisher : Cambridge University Press
ISBN 13 : 1107041236
Total Pages : 385 pages
Book Rating : 4.1/5 (7 download)

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Book Synopsis Pathology of Bone and Joint Disorders Print and Online Bundle by : Edward F. McCarthy

Download or read book Pathology of Bone and Joint Disorders Print and Online Bundle written by Edward F. McCarthy and published by Cambridge University Press. This book was released on 2014-11-20 with total page 385 pages. Available in PDF, EPUB and Kindle. Book excerpt: Fully updated new edition covering all aspects of bone and joint diseases in one easily readable volume. Color illustrations throughout.

Radiology of Syndromes, Metabolic Disorders, and Skeletal Dysplasias

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Author :
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.

Hip Sonography

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Publisher : Springer Science & Business Media
ISBN 13 : 3540309586
Total Pages : 118 pages
Book Rating : 4.5/5 (43 download)

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Book Synopsis Hip Sonography by : R. Graf

Download or read book Hip Sonography written by R. Graf and published by Springer Science & Business Media. This book was released on 2006-10-06 with total page 118 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book is a practice-oriented manual teaching the successful examination technique developed and taught by the author known as "Graf's technique". The book is based on the author's experience of more than 20 years. It is easy to read and provides a real "hands-on" manual giving numerous practical tips. The book includes the fundamentals of hip sonography, static as well as dynamic techniques, anatomical identification of the echograms, typing, a measurement technique and usability check. The book also contains an atlas including a summary of the essential data and demonstrating correct and incorrect sonograms in different variations.

The Bedside Dysmorphologist

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Publisher : Oxford University Press, USA
ISBN 13 : 0199970882
Total Pages : 409 pages
Book Rating : 4.1/5 (999 download)

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Book Synopsis The Bedside Dysmorphologist by : William Reardon

Download or read book The Bedside Dysmorphologist written by William Reardon and published by Oxford University Press, USA. This book was released on 2015-10-14 with total page 409 pages. Available in PDF, EPUB and Kindle. Book excerpt: Dysmorphology is the study of congenital malformations and is one of the core areas of clinical genetics. Often the first professional seeing these birth defects is a pediatrician, who notices, for example, that the ears may be rather low set. While in itself minor, this physical sign may indicate a malformation that will be accompanied by other serious genetic disorders. Does the sign, or does it not, indicate an underlying syndrome? That question is often quite difficult to answer, and the texts that may aid in diagnosis are highly sophisticated and rather daunting for the practicing pediatrician. The aim of Reardon's new text is to provide a practical solution to this situation.

Criteria for Determining Disability in Infants and Children

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Author :
Publisher : Agency for Healthcare Research & Quality
ISBN 13 :
Total Pages : 254 pages
Book Rating : 4.E/5 ( download)

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Book Synopsis Criteria for Determining Disability in Infants and Children by : Patricia Grace Wheeler

Download or read book Criteria for Determining Disability in Infants and Children written by Patricia Grace Wheeler and published by Agency for Healthcare Research & Quality. This book was released on 2003 with total page 254 pages. Available in PDF, EPUB and Kindle. Book excerpt:

Practical Pediatric Endocrinology in a Limited Resource Setting

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Publisher : Academic Press
ISBN 13 : 0124079369
Total Pages : 415 pages
Book Rating : 4.1/5 (24 download)

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Book Synopsis Practical Pediatric Endocrinology in a Limited Resource Setting by : Margaret Zacharin

Download or read book Practical Pediatric Endocrinology in a Limited Resource Setting written by Margaret Zacharin and published by Academic Press. This book was released on 2013-04-11 with total page 415 pages. Available in PDF, EPUB and Kindle. Book excerpt: Practical Pediatric Endocrinology in a Limited Resource Setting provides a guide for managing pediatric endocrine problems in a limited resource setting, together with an outline of the bases for these disorders. The book outlines a plan for coming to a likely diagnosis in situations where resources are constrained, and suggests ways to access more sophisticated technologies for diagnostic confirmation and extension of available tools. Further extending and complementing each chapter is a series of scenarios for use as teaching and learning tools. Together with a clinical question, all chapters include a suggested outline for assessment that assists readers facing similar situations in daily practice. Each scenario works through a typical series of deductive steps used to establish a working diagnosis, while considering both a differential diagnosis and reminding readers of current knowledge around the subject matter. - Provides a working knowledge of pediatric endocrinology, from the viewpoint of practical application, for residents and clinicians practicing in settings with scarce material resources - Features clinically based chapters, empahsising workable diagnoses and management plans in limited resource situations - Includes information on Type 1 diabetes mellitus, given its increasing prevalence worldwide - Describes basic research techniques and planning, intended to foster collaboration between colleagues and other centers in clinical or basic research, which can inform clinical practice and drive innovation

Essentials of Anesthesia for Infants and Neonates

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Publisher : Cambridge University Press
ISBN 13 : 1107069777
Total Pages : 465 pages
Book Rating : 4.1/5 (7 download)

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Book Synopsis Essentials of Anesthesia for Infants and Neonates by : Mary Ellen McCann

Download or read book Essentials of Anesthesia for Infants and Neonates written by Mary Ellen McCann and published by Cambridge University Press. This book was released on 2018-02-22 with total page 465 pages. Available in PDF, EPUB and Kindle. Book excerpt: A practical, comprehensive guide to the special needs of infants and neonates undergoing anesthesia.