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  • © 2005

Abnormal Skeletal Phenotypes

From Simple Signs to Complex Diagnoses

  • 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

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Table of contents (120 chapters)

  1. Front Matter

    Pages I-XIV
  2. Part I

    1. Skull

      • Alessandro Castriota-Scanderbeg
      Pages 3-109
    2. Thorax

      • Alessandro Castriota-Scanderbeg
      Pages 111-165
    3. Spine

      • Alessandro Castriota-Scanderbeg
      Pages 167-232
    4. Pelvis

      • Alessandro Castriota-Scanderbeg
      Pages 233-272
    5. Long Bones

      • Alessandro Castriota-Scanderbeg
      Pages 273-360
    6. Hands

      • Alessandro Castriota-Scanderbeg, Bruno Dallapiccola
      Pages 361-454
    7. Feet

      • Alessandro Castriota-Scanderbeg
      Pages 455-472
    8. Joints

      • Alessandro Castriota-Scanderbeg
      Pages 473-500
    9. Generalized Skeletal Abnormalities

      • Alessandro Castriota-Scanderbeg
      Pages 501-574
  3. Part II

    1. Aarskog Syndrome

      Pages 576-578
    2. Achondrogenesis, Type IB

      Pages 579-580
    3. Achondrogenesis, Type II

      Pages 581-581
    4. Achondroplasia

      Pages 582-587
    5. Angelman Syndrome

      Pages 591-592
    6. Apert Syndrome

      Pages 593-596
    7. Atelosteogenesis

      Pages 599-604
    8. Bardet-Biedl Syndrome

      Pages 605-606

About this book

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.

Reviews

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)

Authors and Affiliations

  • Department of Radiology, Foundation Hospital “Cardinale G. Panico”, Tricase, Lecce, Italy

    Alessandro Castriota-Scanderbeg

  • Department of Experimental Medicine and Pathology, University “La Sapienza”, Rome, Italy

    Bruno Dallapiccola

  • “Casa Sollievo della Sofferenza”, San Giovanni Rotondo, Foggia and Institute “ CSS-Mendel”, Rome, Italy

    Bruno Dallapiccola

Bibliographic Information

  • Book Title: Abnormal Skeletal Phenotypes

  • Book Subtitle: From Simple Signs to Complex Diagnoses

  • Authors: Alessandro Castriota-Scanderbeg, Bruno Dallapiccola

  • DOI: https://doi.org/10.1007/3-540-30361-8

  • Publisher: Springer Berlin, Heidelberg

  • eBook Packages: Medicine, Medicine (R0)

  • Copyright Information: Springer-Verlag Berlin Heidelberg 2005

  • Hardcover ISBN: 978-3-540-67997-4Published: 26 October 2005

  • eBook ISBN: 978-3-540-30361-9Published: 20 March 2006

  • Edition Number: 1

  • Number of Pages: XIV, 962

  • Topics: Imaging / Radiology, Internal Medicine, Anatomy, Human Genetics, Pediatrics, Orthopedics

Buy it now

Buying options

eBook USD 299.00
Price excludes VAT (USA)
  • Available as PDF
  • Read on any device
  • Instant download
  • Own it forever
Hardcover Book USD 379.99
Price excludes VAT (USA)
  • Durable hardcover edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info

Tax calculation will be finalised at checkout

Other ways to access