Pub. Date:
McGraw-Hill Professional Publishing
Congenital Malformations: Evidence-Based Evaluation and Management / Edition 1

Congenital Malformations: Evidence-Based Evaluation and Management / Edition 1

by Barbara K. Burton, Praveen KumarBarbara K. Burton
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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.—Doody's 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

Product Details

ISBN-13: 9780071471893
Publisher: McGraw-Hill Professional Publishing
Publication date: 10/21/2007
Pages: 408
Product dimensions: 7.50(w) x 9.20(h) x 0.80(d)

About the Author

Praveen Kumar, MBBS, DCH, MD, FAAP, is Associate Professor of Pediatrics at the Feinberg School of Medicine, Northwestern University and Attending Neonatology Physician at Children's Memorial Hospital and Northwestern Memorial Hospital, Chicago.

Barbara K. Burton, MD, is Professor of Pediatrics at the Feinberg School of Medicine, Northwestern University, and a clinical geneticist at Children's Memorial Hospital in Chicago.

Table of Contents


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 Terms

Web Resources


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