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Congenital Malformations: Evidence-Based Evaluation and Management

Congenital Malformations: Evidence-Based Evaluation and Management

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A concise, clinically-focused guide to the evaluation and management of infants with congenital malformations

The presentation of malformations and syndromes in this easy to use format is truly unique. Pediatricians and others who are involved in the care of infants with malformations are often faced with the task of finding a quick reference before meeting with concerned parents. This book will often be used by clinicians evaluating a child with a common malformation.... The tables that contain the most common associated syndromes with each malformation are very helpful. So, with this book on the shelf, any clinician could easily and quickly inform themselves about common malformations encountered in nurseries and NICUs all over the world.--Doodys Review Service

Congenital Malformations is a comprehensive, practical text that highlights key perspectives on the medical management of infants with malformations. With its convenient system-based organization and evidence-based approach, this clinically-focused guide is designed to optimize the utilization of limited diagnostic resources. Easy-to-follow algorithms and tables enable you to rapidly identify and manage the many different malformations that commonly present in clinical practice, such as cleft lip, cardiac septal defects, and skeletal dysplasias.


  • Succinct, high-yield coverage allows for efficient review of the most common malformations
  • Evidence-based orientation provides up-to-date, clinically relevant diagnostic and treatment recommendations that are based on a meticulous review of the scientific literature
  • Consistent templated format delivers easily accessible information on:: Epidemiology/Etiology, Clinical Presentation, Associated Malformations and Syndromes, Evaluation, Management and Prognosis, and Genetic counseling
  • Organized by malformation rather than syndrome - for a clear, easy-to-follow diagnostic guide
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  • Preface
    Part I: General Considerations
    1.Dysmorphology, Praveen Kumar
    2.Assessment of an Infant with a Congenital Malformation, Barbara K. Burton
    3.Genetic Counseling: Principles and Practices, Katherine H. Kim
    Part II: Central Nervous System Malformations:
    4.Spina bifida, Barbara K. Burton
    5.Anencephaly, Barbara K. Burton
    6.Encephalocele, Barbara K. Burton
    7.Holoprosencephaly, Barbara K. Burton
    8.Hydrocephalus, Barbara K. Burton
    9.Dandy-Walker Malformation, Barbara K. Burton
    10.Chiari Malformations, Barbara K. Burton
    11.Agenesis of the Corpus Callosum, Barbara K. Burton
    12.Craniosynostosis, Barbara K. Burton
    Part III: Craniofacial Malformations
    13.Cleft Lip and Palate, Brad Angle
    14.Micrognathia, Brad Angle
    15.Congenital Anomalies Associated with Facial Asymmetry, Brad Angle
    16.Ear Anomalies, Brad Angle
    17.Choanal Atresia, Brad Angle
    18.Coloboma, Brad Angle
    19.Cataract, Brad Angle
    Part IV: Respiratory Malformations
    20.Congenital High Airway Obstruction Syndrome, Sandra B. Cadichon
    21.Pulmonary Agenesis, Sandra B. Cadichon
    22.Pulmonary Hypoplasia, Sandra B. Cadichon
    23.Congenital Cystic Adenomatoid Malformations, Sandra B. Cadichon
    24.Congenital Diaphragmatic Hernia, Sandra B. Cadichon
    25.Congenital Hydrothorax, Sandra B. Cadichon
    26.Pulmonary Pulmonary Lymphangiectasia, Sandra B. Cadichon
    Part V: Cardiac Malformations
    27.Septal Defects, Barbara K. Burton
    28.Conotruncal Heart Defects, Amy Wu
    29.Right Ventricle Outflow Tract Obstructive Defects, Barbara K. Burton
    30.Left Ventricle Outflow Tract Obstructive Defects, Barbara K. Burton
    31.Dextrocardia, Barbara K. Burton
    32.Cardiomyopathy, Barbara K. Burton
    Part VI: Gastrointestinal Malformations
    33.Esophageal Atresia and Tracheoesophageal Fistula, Praveen Kumar
    34.Duodenal Atresia, Praveen Kumar
    35.Anorectal Malformations, Praveen Kumar
    36.Hirschsprung Disease, Praveen Kumar
    37.Omphalocele, Praveen Kumar
    38.Gastroschisis, Praveen Kumar
    Part VII: Renal Malformations
    39.Renal Agenesis, Praveen Kumar
    40.Horseshoe Kidney, Praveen Kumar
    41.Renal Cystic Diseases, Praveen Kumar
    42.Posterior Urethral Valves, Praveen Kumar
    Part VIII: Skeletal Malformations
    43.Polydactyly, Praveen Kumar
    44.Syndactyly, Praveen Kumar
    45.Limb Reduction Defects, Preveen Kumar
    46.Skeletal Dysplasias, Praveen Kumar
    47.Arthrogryposis, Praveen Kumar
    Part IX: Miscellaneous Malformations
    48.Single Umbilical Artery, Praveen Kumar
    49.Sacral Dimple and Other Cutaneous Markers of Occult Spinal Dyspraphism, Praveen Kumar
    50. Hemihyperplasia and Overgrowth Disorders, Praveen Kumar
    51. Cystic Hygroma, Praveen Kumar
    Glossary of Genetic TermsWeb Resources
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