Abnormal Skeletal Phenotypes: From Simple Signs To Complex Diagnoses

A. Castriota-Scanderbeg, B. Dallapiccola Abnormal Skeletal Phenotypes From Simple Signs to Complex Diagnoses Alessandro Castriota-Scanderbeg Bruno Dallapiccola Abnormal Skeletal Phenotypes From Simple Signs to Complex Diagnoses With 835 Figures in 1415 Parts 123 Alessandro Castriota-Scanderbeg, MD Pediatrician and Radiologist Director of the CT and MRI Unit Department of Radiology Foundation Hospital “Cardinale G. Panico” Tricase, Lecce, Italy Bruno Dallapiccola, MD Professor of Human Genetics Department of Experimental Medicine and Pathology University “La Sapienza”, Rome, Italy Scientific Director Hospital IRCCS “Casa Sollievo della Sofferenza” San Giovanni Rotondo, Foggia and Institute “CSS-Mendel”, Rome, Italy ISBN-10 ISBN-13 3-540-67997-9 Springer Berlin Heidelberg New York 978-3-540-67997-4 Springer Berlin Heidelberg New York Library of Congress Control Number: 2005929949 This work is subject to copyright. All rights are reserved, whether the whole or part of the material is concerned, specifically the rights of translation, reprinting, reuse of illustrations, recitation, broadcasting, reproduction on microfilm or in any other way, and storage in data banks. Duplication of this publication or parts thereof is permitted only under the provision of the German Copyright Law of September 9, 1965, in its current version, and permission for use must always be obtained from Springer-Verlag.Violations are liable to prosecution under the German Copyright Law. Springer is a part of Springer Science+Business Media springeronline.com © Springer-Verlag Berlin Heidelberg, 2005 Printed in Germany The use of designations, trademarks, etc. in this publication does not imply, even in the absence of a specific statement, that such names are exempt from the relevant protective laws and regulations and therefore free for general use. Product liability: The publisher cannot guarantee the accuracy of any information about dosage and application contained in this book. In every individual case the user must check such information by consulting the relevant literature. Editor: Dr. Ute Heilmann, Heidelberg, Germany Desk editor: Dörthe Mennecke-Bühler, Heidelberg, Germany Production: PRO EDIT GmbH, Heidelberg, Germany Cover-Design: Frido Steinen-Broo, Viladasens, Spain Typesetting and Reproduction: AM-productions GmbH, Wiesloch, Germany Printing and Binding: Stürtz GmbH, Würzburg, Germany Printed on acid-free paper 21/3151bg - 5 4 3 2 1 0 To the memory of my father, Giorgio, and to my mother, Maria Teresa, who illuminated my life with their example. To my uncle Giulio, a second father to me and best friend. To my wife, Caroline, a wellspring of love and unconditional support. A.C.S. To my past, present and future pupils, and to all those whose devotion and love have contributed in such a way that this book has reached the light of day. B.D. VII Foreword When one is asked to review a manuscript in order to write a foreword, one always asks oneself,“Is there anything special about this book?” “Does it supply us with unique information?” I hesitate to think how many years ago it was when I first discussed with Dr. Alessandro Castriota-Scanderbeg the possible publication of this book. It may well have been a decade ago. I seem to remember that I encouraged him to write a text that was truly different from the classic ones. That this most remarkable first edition is unique is easily illustrated. I have personally picked an area I am less familiar with. In Chap. 2, “The Thorax,”