Abnormal Skeletal Phenotypes
From Simple Signs to Complex Diagnoses
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Beschreibung
When one is asked to review a manuscript in order of the different parts of the skeleton and comprises to write a foreword,one always asks oneself,“Is there about 600 pages. anything special about this book?”“Does it supply The reader will ?nd something about the in- us with unique information?”I hesitate to think how dence, anatomic location, pathogenesis, differential many years ago it was when I ?rst discussed with diagnosis, diagnostic relevance, and, if known, Dr. Alessandro Castriota-Scanderbeg the possible the pattern of inheritance.This approach to the s- publication of this book. It may well have been a ject, which is essentially symptom-based, contrasts decade ago. I seem to remember that I encouraged markedly with the conventional texts that either s- him to write a text that was truly different from the tematically report a given disorder or list the features classic ones. that form a gamut. That this most remarkable ?rst edition is unique is In addition, the authors provide a second part of easily illustrated. I have personally picked an area I 300 pages in which they cover approximately 100 am less familiar with. In Chap. 2,“The Thorax,”the syndromes, congenital anomaly syndromes, skeletal following sections are covered: embryology of the dysplasias, and chromosomal disorders to aid in thorax, abnormal shape and size of the chest, small major differential diagnosis. Of special value is the thorax and various conditions that exhibit that sign. presentation of variability of the condition with age.
A true encyclopedia with over 1,300 figures Unique in its scope, including even very rare diseases Of long lasting relevance Symptom-oriented approach A practical guide to recognize basic abnormalities of the skeleton and relate them to the various disease entities Part 1: Description of symptoms ordered by their anatomic location (chapters from head to toe) giving associations for possible causes/syndromes Part 2: Description of syndromes in alphabetical order including incidence, genetics, causes, radiographic appearance, and major differential diagnosis Includes supplementary material: sn.pub/extras
This book focuses on the radiographic changes of malformation syndromes and skeletal dysplasias. It is structured so that the reader can identify the radiographic changes and relate them to specific disease entities. The material is divided into two parts. Part I is structured in a symptom-oriented form and describes approximately 200 radiographic signs, providing information about their incidence, anatomic location, diagnostic relevance, pathogenesis, and pattern of inheritance, if applicable. Part II presents about 100 syndromes and skeletal dysplasias and provides analytical information concerning symptoms, genetics, causes, radiographic appearance, and major differential diagnosis.
Autor*in
Alessandro Castriota-Scanderbeg
Themen in »Abnormal Skeletal Phenotypes«
Birth Defects Chromosom Genetics Malformation Syndromes Osteogenesis imperfecta Radiology Skeletal Dysplasias diagnosis
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From the reviews:
5 Stars Doody's review:
Description: This is a new and exciting book that provides a review of skeletal abnormalities in two ways. The authors approach each abnormal radiologic finding and link each abnormality to specific genetic disorders in the first section. In the second section, the authors review 111 common skeletal dysmorphologic conciliations. Each entry is followed by excellent radiologic images.
Audience: ... this is a great teaching tool for pediatrics, radiology, and genetics residents as well for medical students in general. This is a "must have" book for the pediatric radiologist in practice.
Assessment: The authors have accomplished a tremendous task. They present us with a unique book that deviates from the traditional radiologic atlas format. It allows clinicians to extract from radiologic reports findings that may be significant and associated with specific genetic conditions. This is a unique book, not only in its format, but also in the information it presents. It is the basis of radiological skeletal dysmorphology. The printing, presentation, and images presented are of excellent quality.
"This is a concise book, which can be used as a reference for trying to analyse skeletal dysplasias. … There are many good quality clinical pictures and radiographs. … The text is thoroughly referenced. The text would be useful for orthopaedic, paediatric and radiology departments and all health care professionals, especially orthopaedics and radiologists." (Dr. P. Richards, RAD Magazine, May, 2006)
"This is an excellent book, written by two experienced, well known paediatric radiologists. The book is divided into two parts. … The images are of high quality and are relevant to the text. I highly recommend this book to all hospitals and large private practice libraries. It is an indispensable book for those working in paediatric radiology, orthopaedic surgery, paediatric and genetics."(K Kozlowski, Australasian Radiology, Vol. 51, 2007)
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