ebook img

Avery's Diseases of the Newborn PDF

1633 Pages·2005·38.44 MB·English
Save to my drive
Quick download
Download
Most books are stored in the elastic cloud where traffic is expensive. For this reason, we have a limit on daily download.

Preview Avery's Diseases of the Newborn

FM00-001-024 6/11/04 8:28 PM Page vii Contributors Ira Adams-Chapman, M.D. H. Scott Baldwin, M.D. Co-Director, Developmental Progress Clinic, Department Katrina Overall Professor of Pediatrics, Professor of Cell of Pediatrics, Emory University School of Medicine, and Developmental Biology, and Vice-Chair for Labora- Atlanta, Georgia tory Sciences in Pediatrics, Department of Pediatrics, Van- Nosocomial Infections in the Nursery derbilt University School of Medicine; Senior Cardiologist, Vanderbilt Children’s Hospital, Nashville, Tennessee Anne M. Ades, M.D. Embryology and Development of the Cardiovascular System Clinical Associate Professor of Neonatology, University of Pennsylvania School of Medicine; Neonatologist, The Chil- Philip L. Ballard, M.D., Ph.D. dren’s Hospital of Philadelphia, Philadelphia, Pennsylvania Gisela and Dennis Alter Professor of Pediatrics, Division Management of Congenital Heart Disease in the Low-Birth- of Neonatology, Department of Pediatrics, University of Weight Infant Pennsylvania School of Medicine; Director of Neona- tal Research, The Children’s Hospital of Philadelphia, Amina Ahmed, M.D. Philadelphia, Pennsylvania Clinical Assistant Professor, University of North Carolina Hormonal Influences on Fetal Development; Lung Develop- at Chapel Hill School of Medicine; Pediatric Infecti- ment: Embryology, Growth, Maturation, and Developmental ous Disease, Carolinas Medical Center, Charlotte, North Biology Carolina Toxoplasmosis, Syphilis, Malaria, and Tuberculosis Roberta A. Ballard, M.D. Professor of Pediatrics, University of Pennsylvania School Simone Albers, M.D. of Medicine; Neonatologist, The Children’s Hospital of Fellow in Pediatrics, Muenster University Faculty of Philadelphia and Hospital of the University of Pennsylvania, Medicine and University Children’s Hospital, Muenster, Philadelphia, Pennsylvania Germany Nonimmune Hydrops; Resuscitation in the Delivery Room; Res- Newborn Screening piratory Failure in the Term Infant; Bronchopulmonary Dysplasia; Disorders of the Chest Wall, Pleural Cavity, and Diaphragm Marilee C. Allen, M.D. Professor of Pediatrics, Johns Hopkins University School Beverly A. Banks-Randall, M.D., Ph.D., M.H.S. of Medicine; Associate Director of Neonatology, Johns Director of Neonatology, Roy Lester Schneider Hospital, Hopkins Hospital, and Co-Director, NICU Develop- St. Thomas, U.S. Virgin Islands mental Clinic, Kennedy Krieger Institute, Baltimore, Bronchopulmonary Dysplasia Maryland Risk Assessment and Neurodevelopmental Outcomes Stephen Baumgart, M.D. Professor of Pediatrics, State University of New York Maureen Andrew, M.D., F.R.C.P.† at Stony Brook School of Medicine; NICU Director, Uni- Formerly Professor of Pediatrics, McMaster University versity Hospital at Stony Brook, Stony Brook, New York and Hamilton Civic Hospitals Research Centre, Hamilton, Temperature Regulation of the Premature Infant Ontario; Professor of Pediatrics, The Hospital for Sick Children, Toronto, Ontario, Canada Karen P. Beckerman, M.D. Hemostatic Disorders of the Newborn Clinical Associate Professor, Department of Obstetrics and Gynecology, New York University School of Medi- Stephen A. Back, M.D., Ph.D. cine, New York, New York Assistant Professor of Pediatrics and Neurology, Depart- Identification, Evaluation, and Care of the Human Immuno- ment of Pediatrics, Oregon Health Sciences University, deficiency Virus–Exposed Neonate Portland, Oregon Developmental Physiology of the Central Nervous System; Thomas J. Benedetti, M.D., M.H.A. Congenital Malformations of the Central Nervous System Vice Chair/Professor, Department of Obstetrics and Gynecology, University of Washington School of Medi- cine, Seattle, Washington †Deceased. Complicated Deliveries: Overview vii FM00-001-024 6/11/04 8:28 PM Page viii viii Contributors Gerard T. Berry, M.D. Bernard A. Cohen, M.D. Professor of Pediatrics and Vice Dean for Research, Jeffer- Associate Professor of Pediatrics and Dermatology, Johns son Medical College, Thomas Jefferson University, Philadel- Hopkins University School of Medicine; Director, Pedi- phia, Pennsylvania atric Dermatology, Johns Hopkins Hospital, Baltimore, Introduction to the Metabolic and Biochemical Genetic Dis- Maryland eases; Inborn Errors of Carbohydrate, Ammonia, Amino Acid, Newborn Skin: Development and Basic Concepts; Congeni- and Organic Acid Metabolism tal and Hereditary Disorders of the Skin; Infections of the Skin; Common Newborn Dermatoses; Cutaneous Congenital Defects Carol Lynn Berseth, M.D. Director, Medical Affairs, Mead Johnson and Company, Meryl S. Cohen, M.D. Evansville, Indiana Interim Director of Echocardiography Laboratory, Developmental Anatomy and Physiology of the Gastrointestinal Tract; Structural Anomalies of the Gastrointestinal Tract; Physio- The Children’s Hospital of Philadelphia, Philadelphia, logic and Inflammatory Abnormalities of the Gastrointestinal Pennsylvania Tract; Abdominal Wall Problems; Necrotizing Enterocolitis and Echocardiography in the Neonatal Intensive Care Unit Short Bowel Syndrome Mitchell I. Cohen, M.D. Kathleen E. Bethin, M.D., Ph.D. Medical Director of Pediatric Cardiology and Director of Assistant Professor of Pediatrics, Division of Endocrinol- Pacing and Electrophysiology, Phoenix Children’s Hospi- ogy and Diabetology, Indiana University School of Medi- tal, Phoenix, Arizona cine, Indianapolis, Indiana Arrhythmias in the Fetus and Newborn Disorders of the Adrenal Gland Robert M. Cohn, M.D. Associate Professor Emeritus, University of Pennsylvania Diana W. Bianchi, M.D. School of Medicine, Philadelphia, Pennsylvania Natalie V. Zucker Professor of Pediatrics, Obstetrics, and Lysosomal Storage, Peroxisomal, and Glycosylation Dis- Gynecology, Tufts University School of Medicine; Chief, orders and Smith-Lemli-Opitz Syndrome Presenting in the Division of Genetics, Tufts–New England Medical Cen- Neonate ter, Boston, Massachusetts Prenatal Genetic Diagnosis F. Sessions Cole, M.D. Park J. White, M.D., Professor of Pediatrics, Professor of Mitchell S. Cairo, M.D. Cell Biology and Physiology, and Vice Chairman, Depart- Professor of Pediatrics, Medicine, and Pathology, Columbia ment of Pediatrics, Washington University School of Medi- University College of Physicians and Surgeons; Chief, Divi- cine; Director, Division of Newborn Medicine, St. Louis sion of Pediatric Hematology and Bone Marrow Transplan- Children’s Hospital, St. Louis, Missouri tation, Children’s Hospital of New York–Presbyterian, New Immunology of the Fetus and Newborn; Viral Infections of York, New York the Fetus and Newborn Neonatal Leukocyte Physiology and Disorders Anthony Corbet, M.B. Anthony Caldamone, M.D. Clinical Professor of Pediatrics, University of Texas Professor of Surgery (Urology) and Pediatrics, Brown Health Science Center at San Antonio; Partner, Magella School of Medicine; Director, Urology Residency Pro- Medical Associates (Pediatrix Medical Group); Staff gram, Rhode Island Hospital, Providence, Rhode Island Neonatologist, Christus Santa Rosa Children’s Hospital, Ambiguous Genitalia in the Newborn Methodist Children’s Hospital, and St. Luke’s Baptist Hospital, San Antonio, Texas Sudhish Chandra, M.D. Control of Breathing; Pulmonary Physiology of the Newborn; Principles of Respiratory Monitoring and Therapy; Respiratory Assistant Professor of Pediatrics, Case Western Reserve Distress in the Preterm Infant; Respiratory Failure in the Term University School of Medicine; Attending Neonatologist, Infant; Anomalies of the Airways, Mediastinum, and Lung Rainbow Babies and Children’s Hospital, Cleveland, Parenchyma; Disorders of the Chest Wall, Pleural Cavity, and Ohio Diaphragm Temperature Regulation of the Premature Infant Scott C. Denne, M.D. Ramen Chmait, M.D. Professor of Pediatrics, Indiana University School of Medi- Staff Physician, Florida Institute for Fetal Diagnosis and cine; Attending Neonatologist, James Whitcomb Riley Hos- Therapy, Florida Perinatal Associates, Tampa, Florida pital for Children, Indianapolis, Indiana Endocrine Disorders in Pregnancy Parenteral Nutrition Ronald I. Clyman, M.D. Theresa J. Di Maggio, R.N., M.S.N., C.R.N.P. Professor of Pediatrics, University of California, San Fran- Pain Management Nurse Practitioner, Departments of cisco, School of Medicine; Senior Staff, Cardiovascular Anesthesiology and Nursing, The Children’s Hospital of Research Institute, San Francisco, California Philadelphia, Philadelphia, Pennsylvania Patent Ductus Arteriosus in the Premature Infant Neonatal Pain Management in the 21st Century FM00-001-024 6/11/04 8:28 PM Page ix Contributors ix Eric C. Eichenwald, M.D. Alfred L. Gest, M.D. Assistant Professor of Pediatrics, Harvard Medical School; Associate Professor of Clinical Pediatrics, Department of Associate Director, Newborn Intensive Care Unit, Brigham Pediatrics, The Ohio State University School of Medicine and Women’s Hospital, Boston, Massachusetts and Public Health; Neonatologist, Children’s Hospital, Care of the Extremely Low-Birth-Weight Infant Columbus, Ohio Principles of Respiratory Monitoring and Therapy Jacquelyn R. Evans, M.D. Clinical Professor, Department of Pediatrics, University Tal Geva, M.D. of Pennsylvania School of Medicine; Clinical Director, Associate Professor of Pediatrics (Radiology), Department of Newborn Services, and Medical Director, Neonatal Pediatrics, Harvard Medical School; Senior Associate in Car- ECMO Program, The Children’s Hospital of Philadelphia, diology, Children’s Hospital Boston, Boston, Massachusetts Philadelphia, Pennsylvania Nomenclature and the Segmental Approach to Congenital Acid-Base, Fluid, and Electrolyte Management; Clinical Heart Disease Evaluation of Renal and Urinary Tract Disease; Acute and Chronic Renal Failure; Renal Vascular Disease in the Newborn Mary Ann E. Gibbons, R.N., B.S.N. Clinical Nurse IV, Newborn/Infant Center, The Children’s Nick Evans, D.M., M.R.C.P.Ch. Hospital of Philadelphia, Philadelphia, Pennsylvania Clinical Associate Professor of Pediatrics, University of Neonatal Pain Management in the 21st Century Sydney Faculty of Medicine; Director, NICU, Royal Prince Alfred Hospital, Lamperdown, New South Wales, Australia William M. Gilbert, M.D. Cardiovascular Compromise in the Newborn Infant Professor and Vice Chair, Department of Obstetrics and Gynecology, University of California, Davis, School of Avroy A. Fanaroff, M.D. Medicine; Attending Physician, University of California, Eliza Henry Barnes Professor in Neonatology and Interim Davis, Medical Center, Sacramento, California Chair, Department of Pediatrics, and Professor of Repro- Placental Function and Diseases: The Placenta, Fetal Mem- ductive Biology, Case Western Reserve University School branes, and Umbilical Cord of Medicine; Neonatologist, Rainbow Babies and Chil- dren’s Hospital, Cleveland, Ohio Bertil E. Glader, M.D., Ph.D. Perinatal-Neonatal Epidemiology Professor of Pediatrics, Stanford University School of Medicine; Attending Pediatrician, Stanford University Donna M. Ferriero, M.D. Hospitals, Stanford, California Professor of Neurology and Pediatrics, Division of Child Erythrocyte Disorders in Infancy Neurology, University of California, San Francisco, School of Medicine, San Francisco, California Christine A. Gleason, M.D. Central Nervous System Injury and Neuroprotection Professor of Pediatrics, University of Washington School of Medicine; Head, Division of Neonatology, Children’s Hos- Delbert A. Fisher, M.D. pital and Regional Medical Center, Seattle, Washington Vice President, Science & Innovation, Quest Diagnostics Developmental Physiology of the Central Nervous System; Nichols Institute, San Juan Capistrano, California Appendix 2: Illustrative Forms and Normal Values Disorders of the Thyroid Gland Michael J. Goldberg, M.D. Laura Flores-Sarnat, M.D. Professor and Chairman, Department of Orthaepedics, Postdoctoral Research Fellow in Neuropathology, Cedars- Tufts University School of Medicine; Orthopaedist in Chief, Sinai Medical Center, Los Angeles, California Tufts–New England Medical Center, Boston, Massachusetts Neonatal Neuromuscular Disorders Common Neonatal Orthopedic Ailments Philippe S. Friedlich, M.D. William V. Good, M.D. Assistant Professor of Clinical Pediatrics, University of Senior Scientist, Smith-Kettlewell Eye Research Institute, Southern California Keck School of Medicine; Section San Francisco, California Head, CHLA Operations, and Medical Director, Center Disorders of the Eye for Newborn and Infant Critical Care, Children’s Hospital Los Angeles, Los Angeles, California Gregory Goodwin, M.D. Clinical Evaluation of Renal and Urinary Tract Disease; Assistant Professor of Pediatrics, Brown School of Medi- Acute and Chronic Renal Failure cine; Director, Pediatric Endocrine Clinic, Rhode Island Hospital, Providence, Rhode Island J. William Gaynor, M.D. Ambiguous Genitalia in the Newborn Associate Professor of Surgery, University of Pennsylvania School of Medicine; Daniel M. Tabas Endowed Chair in Sameer Gopalani, M.D., M.S. Pediatric Cardiothoracic Surgery, The Children’s Hospital Acting Instructor and Fellow, Division of Perinatal Medi- of Philadelphia, Philadelphia, Pennsylvania cine, Department of Obstetrics and Gynecology, University Long-Term Neurologic Outcomes in Children with Congeni- of Washington School of Medicine, Seattle, Washington tal Heart Disease Complicated Deliveries: Overview FM00-001-024 6/11/04 8:28 PM Page x x Contributors Carol L. Greene, M.D. Andrew D. Hull, B.Med.Sci., B.M., B.S., F.R.C.O.G., Clinical Professor, George Washington University School of F.A.C.O.G. Medicine; Clinical Faculty, Division of Genetics and Assistant Professor of Reproductive Medicine and Direc- Metabolism, Department of Pediatrics, Children’s National tor of Research, University of California, San Diego, Medical Center, Washington, DC School of Medicine, San Diego, California Lysosomal Storage, Peroxisomal, and Glycosylation Disorders Hypertensive Complications of Pregnancy; Antepartum Fetal and Smith-Lemli-Opitz Syndrome Presenting in the Neonate Assessment Brian E. Grottkau, M.D. Roy Jedeikin, M.D. Chief of Pediatric Orthopaedics and Adult Spine Surgeon, Medical Director of Pediatric Cardiology, St. Joseph’s Massachusetts General Hospital, Boston, Massachusetts Hospital and Medical Center, Phoenix, Arizona Common Neonatal Orthopedic Ailments Arrhythmias in the Fetus and Newborn Peter J. Gruber, M.D., Ph.D. Assistant Professor of Surgery, University of Pennsylvania Sandra E. Juul, M.D., Ph.D. School of Medicine; Pediatric Cardiologist, The Children’s Associate Professor of Pediatrics, University of Washing- Hospital of Philadelphia, Philadelphia, Pennsylvania ton School of Medicine, Seattle, Washington Common Congenital Heart Disease: Presentation, Manage- Developmental Biology of the Hematologic System ment, and Outcomes Jean-Pierre Guignard, M.D. Bernard S. Kaplan, M.B., B.Ch. Professor of Pediatric Nephrology, University of Lausanne Professor of Pediatrics and Medicine, University of Penn- Faculty of Medicine; Head, Division of Pediatric Nephrol- sylvania School of Medicine; Director of Pediatric ogy, University Hospital Medical Center, Lausanne, France Nephrology, The Children’s Hospital of Philadelphia, Renal Morphogenesis and Development of Renal Function Philadelphia, Pennsylvania Developmental Abnormalities of the Kidneys; Glomeru- lonephropathies and Disorders of Tubular Function Susan Guttentag, M.D. Assistant Professor of Pediatrics, University of Pennsylva- nia School of Medicine; Neonatologist, The Children’s Paige Kaplan, M.B., B.Ch. Hospital of Philadelphia, Philadelphia, Pennsylvania Professor of Pediatrics, University of Pennsylvania School Lung Development: Embryology, Growth, Maturation, and of Medicine; Section Chief, Metabolic Diseases, Depart- Developmental Biology ment of Pediatrics, The Children’s Hospital of Philadel- phia, Philadelphia, Pennsylvania Shannon E. G. Hamrick, M.D. Skeletal Dysplasias and Connective Tissue Disorders Clinical Instructor of Pediatrics, Division of Neonatology, University of California, San Francisco, School of Medi- cine, San Francisco, California Rebecca A. Kazin, M.D. Central Nervous System Injury and Neuroprotection Resident in Dermatology, Johns Hopkins Medical Institu- tions, Baltimore, Maryland Thomas N. Hansen, M.D. Common Newborn Dermatoses Professor and Chairman, Department of Pediatrics, The Ohio State University School of Medicine and Public Thomas F. Kelly, M.D. Health; Chief Executive Officer, Children’s Hospital, Associate Clinical Professor of Reproductive Medicine, Columbus, Ohio University of California, San Diego, School of Medicine, Control of Breathing; Pulmonary Physiology of the Newborn; La Jolla; Director of Maternity Services, UCSD Medical Principles of Respiratory Monitoring and Therapy; Respiratory Center, San Diego, California Distress in the Preterm Infant; Respiratory Failure in the Term Maternal Medical Disorders of Fetal Significance: Seizure Infant; Anomalies of the Airways, Mediastinum, and Lung Disorders, Isoimmunization, Cancer, and Mental Disorders Parenchyma; Disorders of the Chest Wall, Pleural Cavity, and Diaphragm Stefan Kuhle, M.D. Margaret K. Hostetter, M.D. Senior Registrar, Department of Neonatology, University Professor of Pediatrics and Microbial Pathogenesis, Yale Children’s Hospital, Tübingen, Germany University School of Medicine; Physician-in-Chief, Hemostatic Disorders of the Newborn Yale–New Haven Children’s Hospital, New Haven, Connecticut Fungal Infections in the Neonatal Intensive Care Unit Ian A. Laing, M.A. M.D., F.R.C.P.E., F.R.C.P.Ch. Senior Lecturer, Department of Reproductive and Devel- Samuel C. Hughes, M.D. opmental Sciences, University of Edinburgh Faculty of Professor of Anesthesia, University of California, San Fran- Medicine; Clinical Director, Neonatal Unit, Simpson cisco, School of Medicine; Director, Obstetric Anesthesia, Centre for Reproductive Health, Royal Infirmary of Edin- San Francisco General Hospital, San Francisco, California burgh, Edinburgh, United Kingdom Maternal and Fetal Anesthesia and Analgesia Surfactant Treatment of Respiratory Disorders FM00-001-024 6/11/04 8:28 PM Page xi Contributors xi Harvey L. Levy, M.D. Alma Martinez, M.D., M.P.H. Associate Professor of Pediatrics, Harvard Medical Associate Clinical Professor of Pediatrics, San Francisco School; Senior Associate in Medicine (Genetics), Chil- General Hospital and University of California, San Fran- dren’s Hospital Boston, Boston, Massachusetts cisco, School of Medicine, San Francisco, California Newborn Screening Abnormalities of Fetal Growth; Perinatal Substance Abuse Kathryn L. Maschoff, M.D., Ph.D. Mignon L. Loh, M.D. Clinical Associate Professor, Department of Pediatrics, Assistant Professor of Clinical Pediatrics, University of Cali- University of Pennsylvania School of Medicine; Attending fornia, San Francisco, School of Medicine; Attending Physi- Neonatologist, The Children’s Hospital of Philadelphia cian, UCSF Children’s Hospital, San Francisco, California and Hospital of the University of Pennsylvania, Philadel- Congenital Malignant Disorders phia, Pennsylvania Embryology and Development of the Cardiovascular Scott A. Lorch, M.D., M.S.C.E. System Assistant Professor, University of Pennsylvania School of Medicine; Clinical Associate, Division of Neonatology, Patricia Massicotte, M.D., M.Sc., F.R.C.P.C. The Children’s Hospital of Philadelphia, Philadelphia, Professor of Pediatrics, University of Alberta Faculty of Pennsylvania Medicine; Attending Physician, Stollery Children’s Hospi- Nonimmune Hydrops tal, Edmonton, Alberta, Canada Hemostatic Disorders of the Newborn Ralph A. Lugo, Pharm.D. Katherine K. Matthay, M.D. Associate Professor, University of Utah College of Phar- Professor of Pediatrics, University of California, San Fran- macy, Salt Lake City, Utah cisco, School of Medicine; Interim Chief, Pediatric Hema- Pharmacologic Principles and Practicalities tology-Oncology, and Director, Pediatric Oncology, UCSF Children’s Hospital, San Francisco, California Geoffrey A. Machin, M.D., Ph.D. Congenital Malignant Disorders Fetal/Genetic Pathologist, The Permanente Medical Group, Department of Pathology, Kaiser Oakland, Oak- William C. Mentzer, M.D. land, California Professor of Pediatrics Emeritus, University of California, Placental Function and Diseases: The Placenta, Fetal Mem- San Francisco, School of Medicine; Attending Pediatric branes, and Umbilical Cord; Multiple Birth Hematologist/Oncologist, University of California Medical Center, San Francisco, California James R. MacMahon, M.D. Erythrocyte Disorders in Infancy Associate Professor of Pediatrics, Staff Physician, Maine Medical Center, Portland, Maine Jeffrey D. Merrill, M.D. Neonatal Hyperbilirubinemia Assistant Professor of Pediatrics, University of Pennsylva- nia School of Medicine; Medical Director, Intensive Care Nursery, Hospital of the University of Pennsylvania, George A. Macones, M.D., M.S.C.E. Philadelphia, Pennsylvania Associate Professor, Department of Obstetrics and Gyne- Resuscitation in the Delivery Room cology, University of Pennsylvania School of Medicine; Director, Maternal Fetal Medicine, Hospital of the Uni- Carol A. Miller, M.D. versity of Pennsylvania, Philadelphia, Pennsylvania Clinical Professor, Department of Pediatrics, University Prematurity: Causes and Prevention of California, San Francisco, School of Medicine, San Francisco, California Ashima Madan, M.D. Routine Newborn Care Associate Professor of Pediatrics, Stanford University School of Medicine; Staff Physician, Lucile Salter Packard Lesley Mitchell, A.R.T., M.Sc. Children’s Hospital, Stanford, California Associate Professor of Pediatrics, University of Alberta Fac- Central Nervous System Injury and Neuroprotection; Neona- ulty of Medicine; Scientific Director, Pediatric Thrombosis tal Hyperbilirubinemia; Disorders of the Eye Program, Stollery Children’s Hospital, Edmonton, Alberta, Canada Hemostatic Disorders of the Newborn Bradley S. Marino, M.D. Assistant Professor of Anesthesia and Pediatrics, Univer- sity of Pennsylvania School of Medicine; Assistant Physi- Alicia A. Moise, M.D. cian, Division of Cardiology and Division of Critical Care Associate Professor of Clinical Pediatrics, Department of Medicine, The Children’s Hospital of Philadelphia, Pediatrics, The Ohio State University School of Medicine Philadelphia, Pennsylvania and Public Health; Neonatologist, Children’s Hospital, Stabilization and Transport of the Neonate with Congenital Columbus, Ohio Heart Disease Principles of Respiratory Monitoring and Therapy FM00-001-024 6/11/04 8:28 PM Page xii xii Contributors Thomas J. Mollen, M.D. Elvira Parravicini, M.D. Instructor, University of Pennsylvania School of Medicine; Assistant Professor of Clinical Pediatrics, Columbia Univer- Clinical Associate, The Children’s Hospital of Philadel- sity College of Physicians and Surgeons; Assistant Clinical phia, Philadelphia, Pennsylvania Attending, Children’s Hospital of New York–Presbyterian, Nonimmune Hydrops New York, New York Bacterial Sepsis and Meningitis; Neonatal Leukocyte Physiol- ogy and Disorders Timothy P. Monahan, M.A., M.D. Resident in Dermatology, Johns Hopkins Hospital, Balti- J. Colin Partridge, M.D., M.P.H. more, Maryland Clinical Professor, University of California, San Francisco, Congenital and Hereditary Disorders of the Skin School of Medicine; Attending Neonatologist, San Fran- cisco General Hospital, San Francisco, California Thomas R. Moore, M.D. Perinatal Substance Abuse Professor and Chairman, Department of Reproductive Medicine, University of California, San Diego, School of Dan Poenaru, M.D., M.H.P.E., F.R.C.S.C., F.A.C.S., Medicine; Faculty Physician, UCSD Medical Center, San F.I.C.S. Diego, California Adjunct Associate Professor of Surgery and Pediatrics, Endocrine Disorders in Pregnancy; Maternal Medical Disor- Queen’s University Faculty of Health Sciences, Kingston, ders of Fetal Significance: Seizure Disorders, Isoimmunization, Cancer, and Mental Disorders; Hypertensive Complications of Ontario, Canada; Medical Education and Research Direc- Pregnancy; Antepartum Fetal Assessment tor, AIC Kijabe Hospital, Kijabe, Kenya Structural Anomalies of the Gastrointestinal Tract; Abdomi- nal Wall Problems; Necrotizing Enterocolitis and Short Bowel Louis J. Muglia, M.D., Ph.D. Syndrome Associate Professor of Pediatrics, Molecular Biology and Pharmacology, and Obstetrics and Gynecology, Washing- Brenda B. Poindexter, M.D. ton University School of Medicine; Attending Physician, Assistant Professor of Pediatrics, Indiana University School St. Louis Children’s Hospital, St. Louis, Missouri of Medicine; Attending Neonatologist, James Whitcomb Disorders of the Adrenal Gland Riley Hospital for Children, Indianapolis, Indiana Parenteral Nutrition Robert M. Nelson, M.D., Ph.D. Associate Professor of Anesthesia and Pediatrics, Uni- Richard A. Polin, M.D. versity of Pennsylvania School of Medicine; Attending Professor of Pediatrics, Columbia University College of Physician, Anesthesiology and Critical Care Medicine, Physicians and Surgeons; Director, Division of Neonatol- The Children’s Hospital of Philadelphia, Philadelphia, ogy, Children’s Hospital of New York–Presbyterian, New Pennsylvania York, New York Ethical Decisions in the Neonatal-Perinatal Period Bacterial Sepsis and Meningitis Thomas B. Newman, M.D., M.P.H. Daniel H. Polk, M.D. Professor of Epidemiology and Biostatistics, Departments Professor of Pediatrics, Northwestern University Fein- of Epidemiology and Biostatistics and Pediatrics, Univer- berg School of Medicine; Vice Chief, Division of Neona- sity of California, San Francisco, School of Medicine; tology, Children’s Memorial Hospital, Chicago, Illinois Attending Physician, Well Baby Nursery, UCSF Medical Disorders of the Thyroid Gland Center, San Francisco, California Routine Newborn Care DeWayne M. Pursley, M.D., M.P.H. Assistant Professor of Pediatrics, Harvard Medical School; Eugenia K. Pallotto, M.D. Neonatologist in Chief, Beth Israel Deaconess Medical Assistant Professor of Pediatrics, University of Center, Boston, Massachusetts Missouri–Kansas City School of Medicine; Attending Impact of the Human Genome Project on Neonatal Care Physician, Section of Neonatology, Department of Pedi- atrics, Children’s Mercy Hospitals and Clinics, Kansas Rangasamy Ramanathan, M.D. City, Missouri Professor of Clinical Pediatrics, University of Southern Disorders of Carbohydrate Metabolism California Keck School of Medicine; Associate Division Chief and Section Head, USC Division of Neonatology; Erica S. Pan, M.D., M.P.H. Director, Neonatal-Perinatal Medicine Fellowship Pro- Clinical Instructor, University of California, San Fran- gram, and Director, NICU Women’s and Children’s cisco, School of Medicine; Director, Bioterrorism and Hospital, LAC ⫹ USC Women’s and Children’s Hospi- Emerging Infections Unit, Community Health Epidemi- tal and Children’s Hospital Los Angeles, Los Angeles, ology and Disease Control, San Francisco Department of California Public Health, San Francisco, California Acid-Base, Fluid, and Electrolyte Management; Renal Vascu- Viral Infections of the Fetus and Newborn lar Disease in the Newborn FM00-001-024 6/11/04 8:28 PM Page xiii Contributors xiii Daniela Ramierez-Schrempp, M.D. Pablo J. Sánchez, M.D. Clinical Assistant Instructor in Pediatrics, State University Professor of Pediatrics, Division of Neonatal-Perinatal Med- of New York; Children’s Hospital at Downstate Medical icine and Division of Pediatric Infectious Diseases, Depart- Center, Brooklyn, New York ment of Pediatrics, University of Texas Southwestern Surfactant Treatment of Respiratory Disorders Medical Center; Attending Physician, Parkland Memorial Hospital and Children’s Medical Center, Dallas, Texas Toxoplasmosis, Syphilis, Malaria, and Tuberculosis Joan A. Regan, M.D.† Formerly Associate Professor of Clinical Pediatrics, Harvey B. Sarnat, M.D., F.R.C.P.C. Columbia University College of Physicians and Surgeons, Professor of Pediatrics (Neurology) and Pathology (Neu- and Associate Clinical Attending, Children’s Hospital of ropathology), David Geffen School of Medicine at UCLA; New York–Presbyterian, New York, New York Director, Division of Pediatric Neurology, Neuropatholo- Bacterial Sepsis and Meningitis gist, and Director, Neuromuscular Pathology Laboratory, Cedars-Sinai Medical Center, Los Angeles, California Neonatal Neuromuscular Disorders Elisabeth G. Richard, M.D. Resident in Dermatology, Johns Hopkins Medical Institu- Richard J. Schanler, M.D. tions, Baltimore, Maryland Professor of Pediatrics, Albert Einstein College of Medicine Infections of the Skin of Yeshiva University, Bronx; Chief, Neonatal-Perinatal Medicine, Schneider Children’s Hospital at North Shore, Richard L. Robertson, M.D. North Shore University Hospital, Manhasset, New York Assistant Professor of Radiology, Harvard Medical School; Enteral Nutrition for the High-Risk Neonate Director of Neuroradiology, Children’s Hospital Boston, Boston, Massachusetts Mark S. Scher, M.D. Neonatal Neuroimaging Professor of Pediatrics and Neurology, Case Western Reserve University School of Medicine; Division Chief, Pediatric Neurology, and Director, Pediatric Sleep/Epilepsy Mark A. Rosen, M.D. and Fetal/Neonatal Neurology Programs, Rainbow Babies Professor of Anesthesia and Obstetrics, Gynecology, and and Children’s Hospital, University Hospitals of Cleveland, Reproductive Sciences, University of California, San Cleveland, Ohio Francisco, School of Medicine; Director, Obstetric Anes- Neonatal Seizures thesia, University Hospitals (Moffitt-Long), San Francisco, California Istvan Seri, M.D., Ph.D. Maternal and Fetal Anesthesia and Analgesia Professor of Pediatrics, University of Southern California Keck School of Medicine; Head, USC Division of Neona- Lewis P. Rubin, M.Phil., M.D. tal Medicine, and Medical Director, Institute of Maternal Associate Professor of Pediatrics and Co-Director, Pro- and Fetal Health, Children’s Hospital Los Angeles and gram in Fetal Medicine, Brown Medical School; Staff the LAC ⫹ USC Women’s and Children’s Hospital, Los Neonatologist, Women and Infants Hospital of Rhode Angeles, California Island, Providence, Rhode Island Acid-Base, Fluid, and Electrolyte Management; Cardiovascu- Embryology, Developmental Biology, and Anatomy of the lar Compromise in the Newborn Infant; Clinical Evaluation of Endocrine System; Disorders of Calcium and Phosphorus Renal and Urinary Tract Disease; Acute and Chronic Renal Fail- Metabolism ure; Renal Vascular Disease in the Newborn Elaine C. Siegfried, M.D. Jack Rychik, M.D., F.A.C.C. Associate Clinical Professor of Pediatrics and Dermatology, Associate Professor of Pediatrics, University of Pennsylva- Saint Louis University School of Medicine; Staff Physician, nia School of Medicine; Medical Director, The Fetal Cardinal Glennon Children’s Hospital, St. Louis, Missouri Heart Program, Division of Cardiology, The Children’s Newborn Skin: Development and Basic Concepts; Congenital Hospital of Philadelphia, Philadelphia, Pennsylvania and Hereditary Disorders of the Skin; Infections of the Skin; Echocardiography in the Neonatal Intensive Care Unit Common Newborn Dermatoses; Cutaneous Congenital Defects Gary A. Silverman, M.D., Ph.D. Sulagna C. Saitta, M.D., Ph.D. Associate Professor of Pediatrics, Harvard Medical Assistant Professor of Pediatrics, University of Pennsylva- School; Children’s Hospital, Boston, Massachusetts nia School of Medicine; Attending Physician, Division of Impact of the Human Genome Project on Neonatal Care Human Genetics, The Children’s Hospital of Philadel- phia, Philadelphia, Pennsylvania Rebecca Simmons, M.D. Evaluation of the Dysmorphic Infant; Specific Chromosome Assistant Professor of Pediatrics, University of Pennsylva- Disorders in Newborns nia School of Medicine; Attending Neonatologist, The Children’s Hospital of Philadelphia and Hospital of the University of Pennsylvania, Philadelphia, Pennsylvania †Deceased. Abnormalities of Fetal Growth FM00-001-024 6/11/04 8:28 PM Page xiv xiv Contributors Susan Sniderman, M.D. Janet A. Thomas, M.D. Assistant Professor of Pediatrics, University of Colorado Professor of Pediatrics, Chief, Neonatal Service, San School of Medicine; Director, Inherited Metabolic Dis- Francisco General Hospital, University of California-San eases Clinic, University of Colorado Health Sciences Cen- Francisco, San Francisco, California ter and The Children’s Hospital, Denver, Colorado Initial Evaluation: History and Physical Examination of the Newborn Lysosomal Storage, Peroxisomal, and Glycosylation Disorders and Smith-Lemli-Opitz Syndrome Presenting in the Neonate Thomas L. Spray, M.D. Alice Langdon Warner Professor of Surgery, University of Tivadar Tulassay, M.D., D.Sc. Pennsylvania School of Medicine; Chief, Division of Car- President, Semmelweis University Budapest; Professor and diothoracic Surgery, The Children’s Hospital of Philadel- Chair, Department of Pediatrics, Semmelweis University phia, Philadelphia, Pennsylvania Budapest Faculty of Medicine, Budapest, Hungary Management of Congenital Heart Disease in the Low-Birth- Acute and Chronic Renal Failure; Renal Vascular Disease in Weight Infant the Newborn Charles A. Stanley, M.D. Carmella van de Ven, M.A. Chief, Division of Endocrinology/Diabetes, The Children’s Senior Staff Associate, Columbia University College of Hospital of Philadelphia, Philadelphia, Pennsylvania Physicians and Surgeons, New York, New York Disorders of Carbohydrate Metabolism Neonatal Leukocyte Physiology and Disorders David K. Stevenson, M.D. Betty R. Vohr, M.D. Harold K. Faber Professor of Pediatrics and Senior Asso- Professor of Pediatrics, Brown Medical School; Director, ciate Dean for Academic Affairs, Stanford University Neonatal Follow-up Clinic, Women and Infants Hospital School of Medicine; Director, Charles B. and Ann L. of Rhode Island, Providence, Rhode Island Johnson Center for Pregnancy and Newborn Services, Perinatal-Neonatal Epidemiology and Chief, Division of Neonatal and Developmental Med- icine, Lucile Salter Packard Children’s Hospital, Stanford, Robert M. Ward, M.D. California Professor of Pediatrics, Department of Pediatrics, Division Neonatal Hyperbilirubinemia of Neonatology, University of Utah College of Medicine; Director, Pediatric Pharmacology Program, University of Barbara J. Stoll, M.D. Utah Hospital, Salt Lake City, Utah Professor of Pediatrics and Interim Chair, Department of Pharmacologic Principles and Practicalities; Appendix 1: Pediatrics, Emory University School of Medicine, Atlanta, Drugs Georgia Nosocomial Infections in the Nursery Peggy Sue Weintrub, M.D. Clinical Professor, Department of Pediatrics, University H. William Taeusch, M.D. of California, San Francisco, School of Medicine; Chief, Professor and Vice Chair, Department of Pediatrics, Uni- Division of Pediatric Infectious Diseases, USCF Medical versity of California, San Francisco, School of Medicine; Center, San Francisco, California Chief, Pediatric Service, San Francisco General Hospital, Viral Infections of the Fetus and Newborn San Francisco, California Perinatal Substance Abuse; Initial Evaluation: History and Stephen Welty, M.D. Physical Examination of the Newborn; Bacterial Sepsis and Associate Professor, Department of Pediatrics, The Ohio Meningitis; Surfactant Treatment of Respiratory Disorders State University School of Medicine and Public Health; Chief, Section of Neonatology, Department of Pediatrics, Peter Tarczy-Hornoch, M.D. Children’s Hospital, Columbus, Ohio Associate Professor, Division of Neonatology, Department Respiratory Distress in the Preterm Infant of Pediatrics, and Associate Professor and Head, Division of Biomedical and Health Informatics, University of Washington School of Medicine, Seattle, Washington Gil Wernovsky, M.D. Evaluation of Therapeutic Recommendations, Database Man- Professor of Pediatrics, University of Pennsylvania School agement, and Information Retrieval of Medicine; Director of Program Development, The Cardiac Center, The Children’s Hospital of Philadelphia, Philadelphia, Pennsylvania George A. Taylor, M.D. Stabilization and Transport of the Neonate with Congenital John A. Kirkpatrick Professor of Radiology, Harvard Med- Heart Disease; Common Congenital Heart Disease: Presenta- ical School; Radiologist-in-Chief and Chairman, Depart- tion, Management, and Outcomes; Management of Congenital ment of Radiology, Children’s Hospital Boston, Boston, Heart Disease in the Low-Birth-Weight Infant; Long-Term Massachusetts Neurologic Outcomes in Children with Congenital Heart Neonatal Neuroimaging Disease FM00-001-024 6/11/04 8:28 PM Page xv Contributors xv Calvin B. Williams, M.D., Ph.D. Elaine H. Zackai, M.D. Associate Professor of Pediatrics, Associate Professor of Director, Clinical Genetics, Department of Clinical Genet- Microbiology and Molecular Genetics, Section Chief, ics, The Children’s Hospital of Philadelphia, Philadelphia, Pediatric Rhenumatology, and D.B. and Marjorie Reinhart Pennsylvania Family Foundation Chair in Rhenumatology, Medical Col- Evaluation of the Dysmorphic Infant; Specific Chromosome lege of Wisconsin; Attending Physician, Children’s Hospital Disorders in Newborns of Wisconsin, Milwaukee, Wisconsin Immunology of the Fetus and Newborn Stephen A. Zderic, M.D. Associate Professor of Urology, University of Pennsylvania Linda L. Wright, M.D. School of Medicine; Associate Surgeon, Department of Pregnancy and Perinatology Branch, Center for Research Urology, The Children’s Hospital of Philadelphia, Philadel- for Mothers and Children, National Institute of Child phia, Pennsylvania Health and Human Development, Rockville, Maryland Developmental Abnormalities of the Genitourinary System; Perinatal-Neonatal Epidemiology Urinary Tract Infections and Vesicoureteral Reflux Alison Z. Young, M.D. Resident, Department of Dermatology, Johns Hopkins Hospital, Baltimore, Maryland Cutaneous Congenital Defects FM00-001-024 6/11/04 8:28 PM Page xvii Preface Dr. Alexander Shaffer, a noted Baltimore pediatrician and joined Avery for the fifth edition, and Ballard, for the sixth a former chief resident in pediatrics at Johns Hopkins in 1991, with the addition of Gleason for this edition. Hospital, wrote the first edition of Diseases of the New- The need for updating and revision is constant. Despite born, which was published in 1960. At that time, he rec- the use of the Internet for the latest knowledge, textbooks of ognized that the care of newborns would become a neonatology, along with even more “subspecialized” books, subspecialty, which he termed neonatology. Composed lie dog-eared, broken-spined, and coffee-stained on count- from extensive case records, his book was of use mainly less conference room tables where caregivers congregate in for diagnosis but included reference to the work of many nurseries. In looking over past editions, we note not that who, with difficulty, studied the needs of newborns by what was said was wrong but that the right things were not applying techniques developed by such physiologists and said as extensively, or as insightfully, or as clearly, as we now biochemists as Barcroft and Gamble, who were fascinated understand them. This edition has been completely and by complexities of the fetus and newborn. The senior edi- often painfully revised by some of the best clinicians/investi- tor of this edition had the opportunity to see Dr. Shaffer gators in the field. They did this despite the demands of diagnose the extent of an empyema in a 1-week-old infant their day jobs in the hopes that their syntheses could, as by gentle percussion of the chest. This disease (thank- Ethel Dunham wrote, “spread more widely what is already fully) and this technique (regretfully) are now much less known, . . . and make it possible to apply these facts,” as well commonly observed. Many of the great names in pedi- as stimulating the search for new knowledge. atrics were contemporaries of Shaffer, and they, too, wed This edition is notable for its breadth—from the classic careful observation of newborns to clinical research in history and physical examination of a full-term newborn neonatology: Ethel Dunham, Warkany, Gamble, Gordon, to the details of tiny DNA perturbations that result in Julius Hess, Levine, Clement Smith, Taussig, Diamond, lethal problems after birth. There are new sections on Lubchenco, Rudolph, James, Apgar, and Silverman. With genetics and prenatal diagnosis. Eighty-four new authors the use mainly of antibiotics, warmth, and attention to contributed to this edition, and every section of the book feeding techniques, the infant mortality rate in the United has been updated. New diagnostic and therapeutic tech- States dropped from 47/1000 live births in 1940 to 26/1000 niques are included for virtually every organ system, along in 1960. with countless other changes to this new edition. Thanks Shaffer’s book preceded the advent of ventilator man- to the newest member of our editorial team, Christine agement of newborn infants that, coupled with micro blood Gleason, the neurology section has been thoroughly gas analysis and expertise in the use of umbilical artery updated; Gil Wernovsky, working with Roberta Ballard, catheterization, led to the development of neonatal inten- has done the same for the cardiology section. The discus- sive care for newborns in the 1960s on both sides of the sion of eye disorders has been expanded to include struc- Atlantic. Advances in neonatal surgery and cardiology and tural defects, transient motility disorders, and infection, as further developments in technology paralleled the rise of well as retinopathy of prematurity. An excellent new sec- neonatal intensive care units (NICUs) and regionalization tion on nutrition has been added, as has a discussion of of care for sick newborn infants. Some of the leaders in fetal origins of adult disease. North America were Stahlman in Nashville; Tooley and col- In the era of sudden infant death syndrome (SIDS) pre- leagues in San Francisco; Avery in Baltimore; Auld in New vention, fetal diagnosis of anomalies and genetic disorders, York; Usher and Stern in Montreal; Swyer in Toronto; Oh surfactant therapy, and improved techniques for cardiores- and Hodgman in Los Angeles; Battaglia, Meschia, and But- piratory support, the infant mortality rate for 2002 was terfield in Denver; Sinclair in Hamilton; Sunshine in Palo 6.9/1000. Huge areas remain frustratingly intractable, how- Alto; and Lucey in Burlington. ever. Premature birth rates have increased. The problems of Mary Ellen Avery joined Shaffer for the third edition of fetal exposure to addicting drugs and intoxicants remain this book in 1971. A further drop in the infant mortality ever present. Common germs are brilliantly adaptable in the rate occurred by 1974, to 16.5/1000 live births. By 1977 and face of formidable anti-infectives. Garden-variety problems the fourth edition, the need for multiple contributors with of the NICU such as chronic lung disease, recurrent apneas, subspecialty expertise was clear. In the preface for that edi- retinopathy, necrotizing enterocolitis, intracranial bleeding, tion, Shaffer wrote, “We have also seen the application of and hypoxic ischemic encephalopathy continue to impair some fundamental advances in molecular biology to the the well-being of thousands of infants each year. Problems management of our fetal and newborn patients.” At that so simple they are almost silly remain unsolved (what’s a safe time he was referring to the new knowledge of hemoglo- level of bilirubin? of blood glucose?). Basic questions con- binopathies. In 1981, Shaffer died at the age of 79. Taeusch cerning the nature of growth and development remain, and xvii

See more

The list of books you might like

Most books are stored in the elastic cloud where traffic is expensive. For this reason, we have a limit on daily download.