Atlas Of Skeletal Dysplasias

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 : 42,5 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.

Author : Jürgen W. Spranger,Paula W. Brill,Andrew K. Poznanski
Publisher : Oxford University Press, USA
Page : 306 pages
File Size : 50,7 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.

Author : Christine Hall,Amaka Offiah,Francesca Forzano,Mario Lituania,Michelle Fink,Deborah Krakow
Publisher : CRC Press
Page : 840 pages
File Size : 41,6 Mb
Release : 2012-09-30
Category : Medical
ISBN : 9781315346298

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Fetal and Perinatal Skeletal Dysplasias by Christine Hall,Amaka Offiah,Francesca Forzano,Mario Lituania,Michelle Fink,Deborah Krakow Pdf

Skeletal dysplasias are rare, they may be genetic, sporadic or environmentally determined conditions, affecting bone and cartilage growth and development. The genetic mutations continue to exert their influence throughout the life of the affected individual. This unique, full colour atlas features 132 conditions with 2300 images of over 500 patients. It brings together the wide-ranging clinical disciplines involved in pre and postnatal care and diagnosis and presents perinatal images of rare skeletal disorders to include skeletal dysplasias and malformation syndromes on a case-by-case basis. It presents the most up-to-date information on the individual conditions to include the mode of inheritance (autosomal dominant or recessive, or non-genetic), the Mendelian Inheritance in Man number (MIM) for further reference reading, the locus (the chromosome number and position on the affected chromosome), the mutated gene and the affected protein. Each condition has a brief summary including synonyms, incidence, genetics, age at presentation, clinical, prenatal ultrasound and postnatal radiological features, bone histology, prognosis and differential diagnosis. Images are presented with each case illustrating different imaging modalities and with gross and/or histopathology findings. 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.

Author : Jürgen W. Spranger,Andrea Superti-Furga,Sheila Unger
Publisher : Oxford University Press, USA
Page : 929 pages
File Size : 53,7 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.

Author : Ruth Wynne-Davies,Alan Graham Apley
Publisher : Unknown
Page : 668 pages
File Size : 50,5 Mb
Release : 1985
Category : Medical
ISBN : UOM:39015011450957

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Atlas of Skeletal Dysplasias by Ruth Wynne-Davies,Alan Graham Apley Pdf

Author : Alessandro Castriota-Scanderbeg,Bruno Dallapiccola
Publisher : Springer Science & Business Media
Page : 962 pages
File Size : 41,7 Mb
Release : 2006-03-20
Category : Medical
ISBN : 9783540303619

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Abnormal Skeletal Phenotypes by Alessandro Castriota-Scanderbeg,Bruno Dallapiccola Pdf

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 : Christine M Hall,Amaka C Offiah,Francesca Forzano,Mario Lituania,Gen Nishimura,Valerie Cormier-Daire
Publisher : CRC Press
Page : 1282 pages
File Size : 48,9 Mb
Release : 2024-07-30
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

Author : Jurgen W. Spranger,Paula Brill,Andrea Superti-Furga,Sheila Unger,Gen Nishimura
Publisher : OUP USA
Page : 0 pages
File Size : 45,8 Mb
Release : 2012-11-29
Category : Medical
ISBN : 0195396081

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

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.

Author : Jürgen W. Spranger,Leonard O. Langer,Hans-Rudolf Wiedemann
Publisher : Unknown
Page : 369 pages
File Size : 45,6 Mb
Release : 1974
Category : Bones
ISBN : 3437103229

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Bone Dysplasias by Jürgen W. Spranger,Leonard O. Langer,Hans-Rudolf Wiedemann Pdf

Author : Vicente Gilsanz,Osman Ratib
Publisher : Springer Science & Business Media
Page : 98 pages
File Size : 55,6 Mb
Release : 2011-10-20
Category : Medical
ISBN : 9783642237621

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Hand Bone Age by Vicente Gilsanz,Osman Ratib Pdf

In the past, determination of bone maturity relied on visual evaluation of skeletal development in the hand and wrist, most commonly using the Greulich and Pyle atlas. The Gilsanz and Ratib digital atlas takes advantage of digital imaging and provides a more effective and objective approach to assessment of skeletal maturity. The atlas integrates the key morphological features of ossification in the bones of the hand and wrist and provides idealized, sex- and age-specific images of skeletal development New to this revised second edition is a description and user manual for Bone Age for iPad®, iPhone® and iPod touch®, which can be purchased and used separately from this book. The App can be easily employed to calculate the deviation of the patient’s age from the normal range and to predict a possible growth delay. This easy-to-use atlas and the related App will be invaluable for radiologists, endocrinologists, and pediatricians and also relevant to forensic physicians.

Author : Reinhard Schumacher,Laurie H. Seaver,Jürgen Spranger
Publisher : Springer Science & Business Media
Page : 224 pages
File Size : 43,6 Mb
Release : 2013-03-09
Category : Medical
ISBN : 9783662053744

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Fetal Radiology by Reinhard Schumacher,Laurie H. Seaver,Jürgen Spranger Pdf

- Heavily illustrated atlas covers entire development from week 1 through birth. - Enables the Radiologist or Obstetrician to monitor progress, and the Pathologist to see what went wrong. - Cross-disciplinary expertise; authors are a leading Pediatric Radiologist, a Geneticist, and an expert in abnormal pediatric skeletal development.

Author : B. J. Cremin,P. Beighton
Publisher : Springer Science & Business Media
Page : 236 pages
File Size : 45,7 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.

Author : P. Beighton,B. J. Cremin
Publisher : Springer Science & Business Media
Page : 193 pages
File Size : 51,8 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.

Author : Jürgen W. Spranger
Publisher : Unknown
Page : 802 pages
File Size : 40,5 Mb
Release : 2012
Category : Bones
ISBN : 0199353093

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Bone Dysplasias by Jürgen W. Spranger Pdf

Author : Piero Picci,Marco Manfrini,Nicola Fabbri,Marco Gambarotti,Daniel Vanel
Publisher : Springer Science & Business Media
Page : 370 pages
File Size : 46,5 Mb
Release : 2014-01-18
Category : Medical
ISBN : 9783319017488

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Atlas of Musculoskeletal Tumors and Tumorlike Lesions by Piero Picci,Marco Manfrini,Nicola Fabbri,Marco Gambarotti,Daniel Vanel Pdf

This book reflects the experience of the Rizzoli Orthopedic Institute during more than 100 years of treatment of musculoskeletal tumor and tumorlike lesions. It presents a wide range of lesions from a multidisciplinary perspective, highlighting pertinent clinical, radiological, and histological correlations. Treatment is briefly reported for each entity. In addition, the more recent biomolecular findings of use for diagnosis, prognosis, and treatment are carefully analyzed. The Rizzoli case archive spans more than a century, the first treated case dating back to 28 September 1900, and contains the original material – clinical charts, imaging, paraffin blocks, and histological slides – of more than 40,000 cases, including about 29,000 bone lesions and 11,000 soft tissue lesions. This book reports the most relevant entities and reflects the improvements in knowledge of musculoskeletal tumors as presented during the yearly international course held at the Rizzoli Institute.​