The Man Behind the Syndrome PDF
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Peter Beighton . Greta Beighton TheMan Behind the Syndrome F oreword by John M. Opitz With 100 Illustrations Springer-V erlag Berlin Heidelberg New York Tokyo Peter Beighton, MD, PhD, FRCP, DCH Professor of Human Genetics and Director, MRC Unit for Inherited Skeletal Dysplasias, Medical School and Groote Schuur Hospital, University of Cape Town, South Africa Greta Beighton, SRN, SCM, IN Research Associate, Department of Human Genetics, University of Cape Town, South Africa ISBN-13: 978-1-4471-1417-8 e-ISBN-13:978-1-4471-1415-4 DOI:1O.1007/978-1-4471-1415-4 Library of Congress Cataloging-in-Publication Data Beighton, Peter. The man behind the syndrome. Bibliography: p. Indudes index. 1. Physicians - Biography. 2. Geneticists - Bioggrapy. 3. Medical genetics. I. Beighton, Greta, 1939- . II. Title R134.B45 1986 610'.92'4 [Bl 86-3790 ISBN-13: 978-1-4471-1417-8 (U.S.) The work is subject to copyright. All rights are reserved, whether the whole or part of the material is concemed, specifically those of translation, reprinting, re-use of illustrations, broadcasting, reproduction by photocopying, machine or similar means, and storage in data banks. Under §54 of the German Copyright Law where copies are made for other than private us e, a fee is payable to 'Verwertungsgesellschaft Wort', Munich. © Springer-Verlag Berlin Heidelberg 1986 Softcover reprint of the hardcover 1st edition 1986 The use of registered names, 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 of general use. Filmset by Wilmaset, Birkenhead, Wirral 2128/3916-543210 To our ehiidren, for the joy and happiness they have brought into our lives FOREWORD The Man Behind the Syndrome by my friends and colleagues Peter and Greta Beighton is a delightful book which will be read eagedy and with keen intellectual pleasure by all human, medical, and dinical genetieists. The reader with a historical tum of mind will note right away that the book achieyes more than the usual entry in a dictionary of seientific biography. In addition to the standard professional data, it gives a photo and some personal glimpses of the man, allowing the reader to appreeiate his human qualities as weIl. This volume contains, so to speak, the creme de la creme, namely, those in a group whose names are daily on the lips of every practicing dinical geneticist. This interesting and instructive book is commended to all in medical genetics and the history of medieine with the highest enthusiasm and gratitude to its authors for undertaking this labor of love. A second volume is planned for more recently delineated disorders for which an eponym is not yet widely used. An endlessly faseinating group of persons passes before us in this volume. How they, and not some others perhaps equally or more deserving, came to be in the book, is a subject of great interest to historians, and is alluded to in several instances by the authors. I am sure that in many cases, e.g., Kallmann, von Volkmann, Brachmann, and Ullrich, it was the impossibility of obtaining biographical data that has led to their omission, rather than a dismissal of the contributions made by these individuals. A careful reading of The Man Behind the Syndrome shows that in general the biographies induded in the volume attained their place in history not by aceident, but by virtue of great gifts and consistently hard work of the highest quality. In this sense, the quality of greatness is most comparable to the quality of sanctity, and the historiography in The Man Behind the Syndrome is most analogous to the hagiography as contained in such a book as Walter Nigg's Great Saints. In the latter book, the ratio of women to men is 3:6, a ratio which is not significantly different from unity; in the forrner the ratio of 6:204 is deeidedly different from unityo Thus, being a Catholic seems to have given an advantage to hundreds of gifted women over the centuries to develop through "heroic faith and fortitude" their true status of greatness otherwise denied them until recently at secular tasks, a sad comment indeed on the place of women in the practice and the history of medieine. It has been said that "all history is biography." This is also true ofbiology in the sense that all plaftts and animals are living records of both phylogenetic and ontogenetic time encoded in their DNA. Thus, biology can also be viewed as history'since both represent the product of process and stochastic event, the latter induding mutation and sex deterrnination. By way of illustration one need note only the effect of porphyria on the deseendants of Elizabeth of Bohemia. Porphyria was probably still present in Queen Vietoria's father and was ultimately followed by hemophilia in Vietoria's sons, apparently due to a new mutation when she was eoneeived. Or, with respeet to sex deterrnination, one might ask: what if Professor de Lange's mother had had a boy instead of Comelia, or Hitler's mother a girl instead of Adolf? And yet, the "process" in the above definition of history, namely, the sum of all of those aetivities whieh eonstitute "daily life" at home and in ehureh, sehool and dinie, is earried out not by the great but by the ordinary folk perhaps more deserving of the eneomium "normal" than those in The Man Behind the Syndrome or in Great Saints. Thus, in appreciation of all of those "many praetitioners who, though unknown, have advanced the progress of medieine," it is perhaps appropriate to condude, as did Guthrie in his History ofM edicine, by quoting from Sir Thomas Browne's Hydriotaphia: Who knows whether the best of men be known, or whether there be not more remarkable persons forgot, than any that stand remembered in the known account of time? Easter, 1986 John M. Opitz, MD, DSci he Helena, Montana, USA PREFACE There is no history, only biography. - Thomas Carlisle A portrait of the European physician of the last eentury who gave his name to a well known genetie disorder hangs on the wall of our Department. A hint of a smile plays around the eomers of his mouth and beneath his heavy eyelids his gaze is enigmatie. Apart from his nationality and the dinical manifestations of the disease which bears the eponym, we know nothing about his eareer or personal life. Was he sueeessful in other spheres or does the eondition represent his sole daim on posterity? Where did his eareer lead him? What kind of a person was he-witty and intemperate, or serious and sober? The search for the answers to these questions eulminated in the edmpilation of this book. Our purpose in assembling this information is to present biographical details eoneeming medical praetitioners who have aehieved eponymous immortality or notoriety. For the sake of eonsistency and in terms of our own special interests we have restrieted the eontents to disorders and syndromes which are thought to have a signifieant genetie or ehromosomal eomponent. In Seetion I we have provided a photograph or portrait for eaeh of 100 physicians, together with eommentary upon the development of the nomendature. Many of them were aetive during the last eentury and in some instanees the only available photographs were old and of poor quality: nevertheless, these have been induded beeause of their historieal importanee. The physicians mentioned in this seetion are deeeased or have reaehed such seniority that professional jealousy is unlikely to be aroused in their colleagues! We have attempted to provide referenees which pertain to obituaries, eulogies or other sourees of biographieal information and whieh refleet the evolution of the eponymous terminology. The biographies are presented in alphabetieal order in eaeh seetion, but minor diffieulties have' arisen with non-hyphenated eompound names such as Treaeher Collins and Pierre Robin. The designations "von" and "van" posed a similar problem. In these eireumstanees we have eompromised by ehoosing the form which is in general use. Seetion II eontains brief biographieal information eoneeming 110 persons; some are still aetive in their profession while others are deeeased physicians for whom photographs were unobtainable. In this seetion the page layout permitted only a single referenee and we have referred to an obituary if the eponymous author is deeeased and to the originaI artide if he is aliveo Compound eponyms permitted greater flexibility and in several instanees either or both of these forms of referenee have been presented. Indusion in this seetion is somewhat arbitrary and many deserving eponyms have been omitted. This is simply a refleetion upon the availability of biographical information or current addresses and it does not irnply any condemnation of the missing syndrome! Recently delineated disorders for which an eponym is not yet widely used have also been omitted. However, a friend with a pragmatic tum of mind has pointed out that this approach will provide the basis for publication of a second volume-and this is now in preparation. Cape Town Peter Beighton February 1986 Greta Beighton ACKNO~EDGEMENTS Major contributions to our book, for which we are extremely grateful, were made by: Professor H.-R. Wiedemann of Germany Professor David Klein of Switzerland We offer special thanks for their assistance to: Professor Robert Laplane of Paris Professor Pierre Maroteaux of Paris Miss S. Kateher and the staff of the Medical Library, University of Cape Town Arthur Downing, Nighat Ispahany and Anne M. Pascarelli of the New York Academy of Medicine Library Dorothy T. Hanks and Lucinda Keister of the National Library of Medicine (History of Medicine Division), Bethesda, USA G. Davenport, Librarian, Royal College of Physicians, London We are grateful to many other librarians and medical historians for provision of biographical material and photographs: Dr. D. de MouIin of Holland Professor Herman Hamersma of Pretoria Professors de Prost and Civatte of Paris EIizabeth Weeks and Derek Wright of the British Medical Association Library, London William Schupbach of the Wellcome Institute for the History of Medicine, London Dr. Frank B. Johnson of the Armed Forees Institute of Pathology, Washington Daniel W. Bennett III of the Armed Forees Medical Museum, Washington Micaela Sullivan of the American Medical Association, Chicago Doris Thibodeau of the Johns Hopkins University Institute of the History of Medicine, Baltimore Richard Wolfe of the Francis A. Countway Library of Medicine, Harvard Medical School Andi Wellman of the Alzheimer's Disease Society, London Sharon West of the University of Washington Alain Besson of the Medical College of St. Bartholomew's Hospital, London c. S. Lawrence of the Institute of Ophthalmology Library, London M. Beryl Bailey of the National Hospital Library, Queen Square, London We are appreciative of help which we received from friends and colleagues in the following fields: Translations German - Dr. F. van Greunen, W. Heitner Esq., Mrs. Ezette Gericke and Miss Gillian Wallis Dutch - Dr. George Gericke Swedish - Mrs. Sonja Winship and Mrs. R. Liljestrand Preparation of the photographs R. A. de Meneaud Esq. Preparation of the manuscript Mrs. Gillian Shapley, Mrs. Elaine Lavin, Mrs. Sandy Gunst and Miss Margaret Norton Proof reading Dr. Jack Goldblatt, Dr. Denis Viljoen and Dr. Ingrid Winship Copy editing Josephine Strong Financial support for background research University of Cape Town Staff Research Fund, South African Medical Research Council, Harry Crossley Foundation.and the Mauerberger Fund The initial concept concerning this book was developed in agarden in Athens, during a conversation with Professors Robert Gorlin and Richard Goodman, to whom we offer our thanks!
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