Bone Dysplasias

Bone Dysplasias
Author: Jürgen W. Spranger
Publisher: Oxford University Press, USA
Total Pages: 306
Release: 2002
Genre: Bone Diseases, Developmental
ISBN: 9780195214741

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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.

Bone Dysplasias

Bone Dysplasias
Author: Jürgen W. Spranger
Publisher: Oxford University Press, USA
Total Pages: 929
Release: 2018
Genre: Medical
ISBN: 0190626658

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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.

Atlas of Skeletal Dysplasias

Atlas of Skeletal Dysplasias
Author: Ruth Wynne-Davies
Publisher:
Total Pages: 668
Release: 1985
Genre: Medical
ISBN:

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Fetal and Perinatal Skeletal Dysplasias

Fetal and Perinatal Skeletal Dysplasias
Author: Christine M Hall
Publisher: CRC Press
Total Pages: 1282
Release: 2024-07-30
Genre: Medical
ISBN: 1040005233

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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

Bone Dysplasias

Bone Dysplasias
Author: Jürgen W. Spranger
Publisher: Oxford University Press
Total Pages: 976
Release: 2018-10-25
Genre: Medical
ISBN: 0190626666

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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 of Infancy

Bone Dysplasias of Infancy
Author: B. J. Cremin
Publisher: Springer Science & Business Media
Total Pages: 236
Release: 2012-12-06
Genre: Medical
ISBN: 3642483070

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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.

Abnormal Skeletal Phenotypes

Abnormal Skeletal Phenotypes
Author: Alessandro Castriota-Scanderbeg
Publisher: Springer Science & Business Media
Total Pages: 970
Release: 2006-03-20
Genre: Medical
ISBN: 3540303618

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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.

Bone Dysplasias

Bone Dysplasias
Author: Jurgen W. Spranger
Publisher: OUP USA
Total Pages: 0
Release: 2012-11-29
Genre: Medical
ISBN: 9780195396089

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A unique catalog of diagnostic radiographic images accompanied by relevant clinical description, differential diagnosis, and molecular genetic aspects, Bone Dysplasias is undoubtedly the single most helpful diagnostic reference for the diagnosis of genetic disorders of the skeleton.

Bone Dysplasias

Bone Dysplasias
Author: Jürgen W. Spranger
Publisher:
Total Pages: 802
Release: 2012
Genre: Bones
ISBN: 9780199353095

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Sclerosing Bone Dysplasias

Sclerosing Bone Dysplasias
Author: P. Beighton
Publisher: Springer Science & Business Media
Total Pages: 193
Release: 2012-12-06
Genre: Medical
ISBN: 144711292X

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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.