Brief clinical findings are also given where available. It is of great value to all clinicians and technicians working in fetal medicine and neonatal care.
It greatly assists in diagnostic accuracy and provides clinicians and affected families with the information needed to make informed management decisions. 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 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. The skeleton is involved to a significant extent in more than 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. This book 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 evaluations of treatments. The book is aimed at all students of bone biology and genetics, and with this in mind, it includes general introductory chapters on genetics and bone biology and more specific disease-orientated chapters, which comprehensively summarize the clinical, genetic, molecular genetic, animal model, functional and molecular pathology, diagnostic, counselling and treatment aspects of each disorder.
Saves academic, medical, and pharma researchers time in quickly accessing the very latest details on a broad range of genetic bone issues, as opposed to searching through thousands of journal articles. Provides a common language for bone biologists and geneticists to discuss the development of bone cells and genetics and their interactions in the development of disease Researchers in all areas bone biology and genetics will gain insight into how clinical observations and practices can feed back into the research cycle and will, therefore, be able to develop more targeted genomic and proteomic assays For those clinical researchers who are also MDs, correct diagnosis and therefore correct treatment of bone diseases depends on a strong understanding of the molecular basis for the disease.
Many advances have been made in understanding skeletal dysplasias since the first edition of this classic text appeared in 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. 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.
This superbly illustrated book offers comprehensive and systematic coverage of the pitfalls that may arise during musculoskeletal imaging, whether as a consequence of the imaging technique itself or due to anatomical variants or particular aspects of disease. The first section is devoted to technique-specific artifacts encountered when using different imaging modalities and covers the entire range of advanced methods, including high-resolution ultrasonography, computed tomography, magnetic resonance imaging and positron emission tomography.
Advice is provided on correct imaging technique. In the second section, pitfalls in imaging interpretation that may occur during the imaging of trauma to various structures and of the diseases affecting these structures are described. Misleading imaging appearances in such pathologies as inflammatory arthritides, infections, metabolic bone lesions, congenital skeletal dysplasis, tumors and tumor-like conditions are highlighted, and normal variants are also identified. Pitfalls in Musculoskeletal Radiology will be an invaluable source of information for the practicing radiologist, facilitating recognition of pitfalls of all types and avoidance of diagnostic errors and misinterpretations, with their medicolegal implications.
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.
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. Skip to content. Bone Dysplasias. 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. Author : Ju rgen W. Spranger Publisher: N. Author : P. 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. Professors Beighton and Cremin have used as a basis for their treatise the Paris Nomenclature the modified version of 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. Brill,Andrew K. 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.
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