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Victor C. Baum - Anesthesia for Genetic, Metabolic, and Dysmorphic Syndromes of Childhood

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Using a quick-reference, encyclopedic format, Anesthesia for Genetic, Metabolic, and Dysmorphic Syndromes of Childhood, 3rd Edition, presents the anesthetic implications of a plethora of distinct syndromes, with up-to-date information, complete and current bibliographies, and more than 140 clinical photographs. Youll find practical information on common and uncommon manifestations in the major anatomic areas, as well as what you need to know for safe and effective anesthesia of both children and adults. Key Features: Presents each syndrome in an easy-to-follow format: name, synonym(s), and common and uncommon manifestations in each organ system, followed by anesthetic considerations, including which syndromes have no anesthetic implications. Lists syndromes and synonyms alphabetically, and cross-references synonyms for quick look-up. Incorporates an overview of the pathology and relevant clinical findings for each syndrome, and highlights considerations in perioperative management. Features a helpful glossary at the beginning of the book, as well as diagrams that review pertinent biochemical pathways. Now with the print edition, enjoy the bundled interactive eBook edition, offering tablet, smartphone, or online access to: Complete content with enhanced navigation Powerful search tools and smart navigation cross-links that pull results from content in the book, your notes, and even the web Cross-linked pages, references, and more for easy navigation Highlighting tool for easier reference of key content throughout the text Ability to take and share notes with friends and colleagues Quick reference tabbing to save your favorite content for future use

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Anesthesia for Genetic Metabolic Dysmorphic Syndromes of Childhood - photo 1
Anesthesia
for Genetic, Metabolic, & Dysmorphic Syndromes of Childhood
Anesthesia
for Genetic, Metabolic, & Dysmorphic Syndromes of Childhood

Third Edition

Victor C. Baum , MD

Formerly, Frederic A. Berry Professor of Pediatric Anesthesiology
Professor of Pediatrics
University of Virginia
Charlottesville, Virginia

Jennifer E. O'Flaherty , MD, MPH

Associate Professor of Anesthesiology and Pediatrics
Geisel School of Medicine and Dartmouth-Hitchcock Medical Center
Lebanon, New Hampshire

Acquisitions Editor Keith Donnellan Product Development Editor Nicole - photo 2

Acquisitions Editor: Keith Donnellan

Product Development Editor: Nicole Dernoski

Editorial Assistant: Kathryn Leyendecker

Production Project Manager: Marian Bellus

Design Coordinator: Theresa Mallon

Manufacturing Coordinator: Beth Welsh

Marketing Manager: Dan Dressler

Prepress Vendor: SPi Global

3rd edition

Copyright 2015 Wolters Kluwer

Copyright 2007 by Lippincott Williams & Wilkins, a Wolters Kluwer Business

Copyright 1999 by Lippincott Williams & Wilkins

All rights reserved. This book is protected by copyright. No part of this book may be reproduced or transmitted in any form or by any means, including as photocopies or scanned-in or other electronic copies, or utilized by any information storage and retrieval system without written permission from the copyright owner, except for brief quotations embodied in critical articles and reviews. Materials appearing in this book prepared by individuals as part of their official duties as U.S. government employees are not covered by the above-mentioned copyright. To request permission, please contact Wolters Kluwer Health at Two Commerce Square, 2001 Market Street, Philadelphia, PA 19103, via email at (products and services).

9 8 7 6 5 4 3 2 1

Printed in China


Library of Congress Cataloging-in-Publication Data

Baum, Victor C., author.

Anesthesia for genetic, metabolic, and dysmorphic syndromes of childhood / Victor C. Baum, Jennifer E. O'Flaherty. Third edition.

p. ; cm.

Anesthesia for genetic, metabolic, & dysmorphic syndromes of childhood

Includes bibliographical references.

ISBN 978-1-4511-9279-7

I. O'Flaherty, Jennifer E., author.II. Title.III. Title: Anesthesia for genetic, metabolic, & dysmorphic syndromes of childhood.

[DNLM:1. Anesthesia.2. Child.3. Congenital Abnormalities.4. Genetic Diseases, Inborn.5. Infant. 6. Metabolic Diseases.WO 440]

RD139

617.9'6083dc23

2014031536


This work is provided as is, and the publisher disclaims any and all warranties, express or implied, including any warranties as to accuracy, comprehensiveness, or currency of the content of this work.

This work is no substitute for individual patient assessment based upon healthcare professionals' examination of each patient and consideration of, among other things, age, weight, gender, current or prior medical conditions, medication history, laboratory data and other factors unique to the patient. The publisher does not provide medical advice or guidance and this work is merely a reference tool. Healthcare professionals, and not the publisher, are solely responsible for the use of this work including all medical judgments and for any resulting diagnosis and treatments.

Given continuous, rapid advances in medical science and health information, independent professional verification of medical diagnoses, indications, appropriate pharmaceutical selections and dosages, and treatment options should be made and healthcare professionals should consult a variety of sources. When prescribing medication, healthcare professionals are advised to consult the product information sheet (the manufacturer's package insert) accompanying each drug to verify, among other things, conditions of use, warnings and side effects and identify any changes in dosage schedule or contradictions, particularly if the medication to be administered is new, infrequently used or has a narrow therapeutic range. To the maximum extent permitted under applicable law, no responsibility is assumed by the publisher for any injury and/or damage to persons or property, as a matter of products liability, negligence law or otherwise, or from any reference to or use by any person of this work.

LWW.com

To Diana Edwards for yeoman's (yeowoman's?) work in the virtual library

To KEL, who was there when I needed someone

To those at UVA who gave me the additional time

to work on this editionyou know who you are

And to Lora, forever, as always

V.C.B.

To my earliest mentors, Robert M. Epstein, Frederic A. Berry, and Madelyn D. Kahana,

for modeling successful and fulfilling medical careers

To my wife Beth and our wonderful children Katie, Liam, and Molly

J.E.O.

Contents
Preface to the Third Edition

We remain grateful to the pediatric anesthesiology community for the success of the first two editions of this book and for affirming our original hope that a book such as this would be useful. We are grateful for the positive comments we have received from colleagues around the world. Since the identification of underlying genetic mechanisms has continued at a frenetic pace, we have endeavored to update this information and again have tried to include almost all relevant syndromes that have appeared in the English language anesthesia literature along with all, or most, of the papers in the English language anesthesia literature relevant to the specific syndromes included in this book.

We continue to be sensitive to readers who would like lists of findings to aid in syndrome diagnosis. However, as we indicated in the Preface to the Second Edition, this approach is rarely undertaken by an anesthesiologist. After all, if it were that simple we would not need subspecialists in genetics and dysmorphology. In addition to the example of craniosynostosis in the Preface to the Second Edition, we note that, as of 2010, there have been described 310 disorders with polydactyly, of which 290 can be ascribed to a specific syndrome. However, for those who would (or need to) give it a go, we recommend The Bedside Dysmorphologist by William Reardon (Oxford University Press, 2008), which is organized by physical findings. However, even this is inadequate. Reardon, for example, lists only 16 syndromes associated with polydactyly.

As was the case in the first two editions, we remain unsure of the dividing line between syndromes, or at least how we envisioned that term, and diseases or disorders. We struggled with this as we tried to keep the book at a reasonable length, one of its strengths, but yet make it as inclusive as possible. In this edition, we deleted most references from before 1990. For those interested in older references, please see the prior editions. Similarly, we struggled with which photos to include without inordinately increasing the heft of the book. Again, we assume all blame if your favorite syndrome, reference, or photo was left on the editing room floor. We just could not include everything. If a syndrome is not here, in addition to Mendelian Inheritance in Man (see below, Preface to the Second Edition) another online reference source is Orphanet, at http://www.orpha.net, and http://www.orphananesthesia.eu presents guidelines for the management of many of these disorders.

We would like to thank the following for supplying expertise on specific syndromes: Craig Langman (Feinberg School of Medicine, Northwestern University), Raju Reddy, Birmingham (UK) Children's Hospital, and our colleagues Julie Kim at Dartmouth and Peter Netland, Emilie Rissman, Noel Derecki, and David Traul at the University of Virginia. As in the prior editions, we also particularly thank those children and parents from around the world who graciously offered to let us use photographs of themselves or their children and who shared with us their stories. Please use this book for the benefit of your patients and as always we enjoy hearing feedback from readers.

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