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CONGENITAL MALFORMATIONS ᭤ NOTICE Medicine is an ever-changing science. As new research and clinical experience broaden our knowledge, changes in treatment and drug therapy are required. The authors and the publisher of this work have checked with sources believed to be reliable in their efforts to provide information that is complete and generally in accord with the standards accepted at the time of publication. However, in view of the possibility of human error or changes in medical sciences, neither the au- thors nor the publisher nor any other party who has been involved in the preparation or publi- cation of this work warrants that the information contained herein is in every respect accurate or complete, and they disclaim all responsibility for any errors or omissions or for the results obtained from use of the information contained in this work. Readers are encouraged to con- firm the information contained herein with other sources. For example and in particular, readers are advised to check the product information sheet included in the package of each drug they plan to administer to be certain that the information contained in this work is accurate and that changes have not been made in the recommended dose or in the contraindications for admin- istration. This recommendation is of particular importance in connection with new or infrequently used drugs. CONGENITAL MALFORMATIONS Evidence-Based Evaluation and Management Editors PRAVEEN KUMAR, MBBS, DCH, MD, FAAP Associate Professor of Pediatrics Feinberg School of Medicine Northwestern University Children’s Memorial Hospital and Northwestern Memorial Hospital Chicago, Illinois and BARBARA K. BURTON, MD Professor of Pediatrics Feinberg School of Medicine Northwestern University Children’s Memorial Hospital Chicago, Illinois New York Chicago San Francisco Lisbon London Madrid Mexico City Milan New Delhi San Juan Seoul Singapore Sydney Toronto Copyright © 2008 by The McGraw-Hill Companies, Inc. All rights reserved. Manufactured in the United States of America. Except as permitted under the United States Copyright Act of 1976, no part of this publication may be reproduced or distributed in any form or by any means, or stored in a database or retrieval system, without the prior written permission of the publisher. 0-07-159356-X The material in this eBook also appears in the print version of this title: 0-07-147189-8. All trademarks are trademarks of their respective owners. Rather than put a trademark symbol after every occurrence of a trademarked name, we use names in an editorial fashion only, and to the benefit of the trademark owner, with no intention of infringement of the trademark. Where such designations appear in this book, they have been printed with initial caps. McGraw-Hill eBooks are available at special quantity discounts to use as premiums and sales promotions, or for use in corporate training programs. For more information, please contact George Hoare, Special Sales, at [email protected] or (212) 904-4069. TERMS OF USE This is a copyrighted work and The McGraw-Hill Companies, Inc. (“McGraw-Hill”) and its licensors reserve all rights in and to the work. Use of this work is subject to these terms. Except as permitted under the Copyright Act of 1976 and the right to store and retrieve one copy of the work, you may not decompile, disassemble, reverse engineer, reproduce, modify, create derivative works based upon, transmit, distribute, disseminate, sell, publish or sublicense the work or any part of it without McGraw-Hill’s prior consent. You may use the work for your own noncommercial and personal use; any other use of the work is strictly prohibited. Your right to use the work may be terminated if you fail to comply with these terms. THE WORK IS PROVIDED “AS IS.” McGRAW-HILL AND ITS LICENSORS MAKE NO GUARANTEES OR WARRANTIES AS TO THE ACCURACY, ADEQUACY OR COMPLETENESS OF OR RESULTS TO BE OBTAINED FROM USING THE WORK, INCLUDING ANY INFORMATION THAT CAN BE ACCESSED THROUGH THE WORK VIA HYPERLINK OR OTHERWISE, AND EXPRESSLY DISCLAIM ANY WARRANTY, EXPRESS OR IMPLIED, INCLUDING BUT NOT LIMITED TO IMPLIED WARRANTIES OF MERCHANTABILITY OR FITNESS FOR A PARTICULAR PURPOSE. McGraw-Hill and its licensors do not warrant or guarantee that the functions contained in the work will meet your requirements or that its operation will be uninterrupted or error free. Neither McGraw-Hill nor its licensors shall be liable to you or anyone else for any inaccuracy, error or omission, regardless of cause, in the work or for any damages resulting therefrom. McGraw-Hill has no responsibility for the content of any information accessed through the work. Under no circumstances shall McGraw-Hill and/or its licensors be liable for any indirect, incidental, special, punitive, consequential or similar damages that result from the use of or inability to use the work, even if any of them has been advised of the possibility of such damages. This limitation of liability shall apply to any claim or cause whatsoever whether such claim or cause arises in contract, tort or otherwise. DOI: 10.1036/0071471898 We dedicate this book to all infants with congenital malformations, their parents, and their families. This page intentionally left blank For more information about this title, click here Contents Contributors xiii Preface xv PART I General Considerations / 1 01. Dysmorphology 3 Praveen Kumar 02. Assessment of an Infant with a Congenital Malformation 13 Barbara K. Burton 03. Genetic Counseling: Principles and Practices 21 Katherine H. Kim Part II Central Nervous System Malformations / 39 14. Spina Bifida 41 Barbara K. Burton 5. Anencephaly 51 Barbara K. Burton 6. Encephalocele 53 Barbara K. Burton 7. Holoprosencephaly 57 Barbara K. Burton 8. Hydrocephalus 61 Barbara K. Burton 9. Dandy-Walker Malformation 67 Barbara K. Burton vii viii CONTENTS 10. Chiari Malformations 71 Barbara K. Burton 11. Agenesis of the Corpus Callosum 77 Barbara K. Burton 12. Craniosynostosis 83 Barbara K. Burton Part III Craniofacial Malformations / 91 13. Cleft Lip and Palate 93 Brad Angle 14. Micrognathia 101 Brad Angle 15. Congenital Anomalies Associated with Facial Asymmetry 105 Brad Angle 16. Ear Anomalies 111 Brad Angle 17. Choanal Atresia 117 Brad Angle 18. Coloboma 121 Brad Angle 19. Cataract 125 Brad Angle Part IV Respiratory Malformations / 133 20. Congenital High Airway Obstruction Syndrome 135 Sandra B. Cadichon 21. Pulmonary Agenesis 139 Sandra B. Cadichon 22. Pulmonary Hypoplasia 143 Sandra B. Cadichon CONTENTS ix 23. Congenital Cystic Adenomatoid Malformations 147 Sandra B. Cadichon 24. Congenital Diaphragmatic Hernia 151 Sandra B. Cadichon 25. Congenital Hydrothorax 159 Sandra B. Cadichon 26. Congenital Pulmonary Lymphangiectasia 165 Sandra B. Cadichon Part V Cardiac Malformations / 171 27. Septal Defects 173 Barbara K. Burton 28. Conotruncal Heart Defects 183 Amy Wu 29. Right Ventricular Outflow Tract Obstructive Defects 193 Barbara K. Burton 30. Left Ventricular Outflow Tract Obstructive Defects 199 Barbara K. Burton 31. Dextrocardia 205 Barbara K. Burton 32. Cardiomyopathy 209 Barbara K. Burton Part VI Gastrointestinal Malformations / 215 33. Esophageal Atresia and Tracheoesophageal Fistula 217 Praveen Kumar 34. Duodenal Atresia 223 Praveen Kumar 35. Anorectal Malformations 227 Praveen Kumar x CONTENTS 36. Hirschsprung Disease 233 Praveen Kumar 37. Omphalocele 241 Praveen Kumar 38. Gastroschisis 247 Praveen Kumar Part VII Renal Malformations / 251 39. Renal Agenesis 253 Praveen Kumar 40. Horseshoe Kidney 261 Praveen Kumar 41. Renal Cystic Diseases 265 Praveen Kumar 42. Posterior Urethral Valves 277 Praveen Kumar Part VIII Skeletal Malformations / 283 43. Polydactyly 285 Praveen Kumar 44. Syndactyly 293 Praveen Kumar 45. Limb Reduction Defects 299 Praveen Kumar 46. Skeletal Dysplasias 307 Praveen Kumar 47. Arthrogryposis 321 Praveen Kumar CONTENTS xi Part IX Miscellaneous Malformations / 331 48. Single Umbilical Artery 333 Praveen Kumar 49. Sacral Dimple and Other Cutaneous Markers of Occult Spinal Dysraphism 339 Praveen Kumar 50. Hemihyperplasia and Overgrowth Disorders 347 Praveen Kumar 51. Cystic Hygroma 355 Praveen Kumar Glossary of Genetic Terms 363 Web Resources 375 Index 379 This page intentionally left blank Contributors Brad Angle, MD Katherine H. Kim, MS Associate Professor of Pediatrics Instructor, Department of Pediatrics Feinberg School of Medicine Feinberg School of Medicine Northwestern University Northwestern University Children’s Memorial Hospital Children’s Memorial Hospital Chicago, Illinois Chicago, Illinois Barbara K. Burton, MD Praveen Kumar, MBBS, DCH, MD, FAAP Professor of Pediatrics Associate Professor of Pediatrics Feinberg School of Medicine Feinberg School of Medicine Northwestern University’s Northwestern University Children’s Memorial Hospital Children’s Memorial Hospital and Northwestern Chicago, Illinois Memorial Hospital Chicago, Illinois Sandra B. Cadichon, MD Assistant Professor of Pediatrics Amy Wu, MD Feinberg School of Medicine Pediatric Cardiology Fellow Northwestern University Department of Cardiology Children’s Memorial Hospital and Northwestern The Willis J. Potts Children’s Heart Center Memorial Hospital Children’s Memorial Hospital Chicago, Illinois Chicago, Illinois xiii Copyright © 2008 by The McGraw-Hill Companies, Inc. Click here for terms of use. This page intentionally left blank Preface Based on a World Health Organization (WHO) of these infants. The first three chapters provide report, about 3 million fetuses and infants are a broad overview
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