Abnormal Skeletal Phenotypes PDF Download

Author: Alessandro Castriota-Scanderbeg
Publisher: Springer Science & Business Media
ISBN: 3540303618
Category : Medical
Languages : en
Pages : 970

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Book Description
Taking a symptom-oriented approach, this book focuses on the radiographic changes of malformation syndromes and skeletal dysplasias. Its clear structure makes it an essential, practical guide for radiologists, geneticists, and pediatricians.

Author:
Publisher:
ISBN:
Category : Abnormalities, Human
Languages : en
Pages : 962

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Book Description

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 "Brilliantly written and produced and deserves to be on the shelves of all pediatric radiologists. It should also be available to geneticists, counselors, and pediatricians." --Radiology This updated and expanded fourth edition of Bone Dysplasias presents age-related radiographs, photographs and clinical guidelines for more than 250 rare constitutional skeletal diseases. Focusing on diagnostically essential imaging and clinical features, each chapter is supplemented with prognostic and therapeutic information, a guide to differential diagnoses, and a short list of the most relevant publications. Organized in accordance with the most recent International Nosology and Classification of Genetic Skeletal Disorders, this new Bone Dysplasias distills the insights of a small, world-class author team on diagnosis and clinical approaches to this most difficult class of disorders.

Author: 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: John C. Carey
Publisher: John Wiley & Sons
ISBN: 1119432677
Category : Science
Languages : en
Pages : 1104

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Book Description
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.

Author: Edward F. McCarthy
Publisher: Cambridge University Press
ISBN: 1107041236
Category : Medical
Languages : en
Pages : 385

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Book Description
Fully updated new edition covering all aspects of bone and joint diseases in one easily readable volume. Color illustrations throughout.

Author: Rajesh V. Thakker
Publisher: Academic Press
ISBN: 0128041986
Category : Science
Languages : en
Pages : 880

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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: Peter M. Royce
Publisher: John Wiley & Sons
ISBN: 0471461172
Category : Medical
Languages : de
Pages : 1201

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Book Description
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.

Author: Dino Samartzis
Publisher: Academic Press
ISBN: 0128227796
Category : Science
Languages : en
Pages : 418

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Book Description
The era of big data and personalized spine care has arrived. Within that, imaging and clinical phenotypes are key in establishing personalized algorithms for patient care. This is particularly important in developing novel diagnostics and therapeutics as well as predicting outcomes and establishing preventative measures for various spinal disorders. Spine Phenotypes is a comprehensive resource that outlines phenotype descriptions, their imaging measurements and classifications, and provides an in-depth discussion regarding spine pathology and its clinical relevance. Multiauthored, with multidisciplinary contributions from world leaders in the field of imaging, spine research, and clinical practice, each chapter is rich in visual depiction of imaging phenotypes, providing examples of some established phenotypic measurements with a range of normal and pathologic images and their clinical implications. Spine Phenotypes will be a first of its kind reference for spine researchers, clinicians, and industry. - Book chapters devoted to specific imaging phenotypes with discussion of their clinical correlates - Imaging phenotypes provided with examples of established phenotypic measurements and a range of normal and pathologic images - Multiauthor, multidisciplinary contributions comprising world leaders in the field of spine imaging, research, and clinical practice

Author: Richard M. Hopper
Publisher: John Wiley & Sons
ISBN: 1118470850
Category : Medical
Languages : en
Pages : 2206

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Book Description
Bovine Reproduction is a comprehensive, current reference providing information on all aspects of reproduction in the bull and cow. Offering fundamental knowledge on evaluating and restoring fertility in the bovine patient, the book also places information in the context of herd health where appropriate for a truly global view of bovine theriogenology. Printed in full color throughout, the book includes 83 chapters and more than 550 images, making it the most exhaustive reference available on this topic. Each section covers anatomy and physiology, breeding management, and reproductive surgery, as well as obstetrics and pregnancy wastage in the cow. Bovine Reproduction is a welcome resource for bovine practitioners, theriogenologists, and animal scientists, as well as veterinary students and residents with an interest in the cow.