History

As noted in Mortality/Morbidity, population-based studies show that congenital diaphragmatic hernia (CDH) is diagnosed based on prenatal ultrasonography findings in approximately one half of affected infants. Infants may have a prenatal history of polyhydramnios.

Infants most commonly present with respiratory distress and cyanosis in the first few minutes or hours of life, although a later presentation is possible. The respiratory distress can be severe and may be associated with circulatory insufficiency, requiring aggressive resuscitative measures.

Physical Examination

Infants frequently exhibit a scaphoid abdomen, barrel-shaped chest, and signs of respiratory distress (retractions, cyanosis, grunting respirations).

In left-sided posterolateral hernia, auscultation of the lungs reveals poor air entry on the left, with a shift of cardiac sounds over the right chest. In patients with severe defects, signs of pneumothorax (poor air entry, poor perfusion) may also be found.

Associated anomalies occur in a relatively high percentage of infants. Dysmorphisms such as craniofacial, extremity abnormalities, or spinal dysraphism may suggest syndromic congenital diaphragmatic hernia.

Differential Diagnoses

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Media Gallery

Pediatric Congenital Diaphragmatic Hernia. Radiograph of a 1-day-old infant with a moderate-sized congenital diaphragmatic hernia (CDH). Note the air- and fluid-filled bowel loops in the left chest, the moderate shift of the mediastinum into the right chest, and the position of the orogastric tube.

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Author

Robin H Steinhorn, MD Raymond and Hazel Speck Berry Professor of Pediatrics, Division Head of Neonatology, Vice Chair of Pediatrics, Northwestern University, The Feinberg School of Medicine

Robin H Steinhorn, MD is a member of the following medical societies: Alpha Omega Alpha, American Pediatric Society, American Academy of Pediatrics, American Heart Association, American Thoracic Society, Society for Pediatric Research

Disclosure: Nothing to disclose.

Coauthor(s)

Nicolas FM Porta, MD Associate Professor, Department of Pediatrics, Northwestern University, The Feinberg School of Medicine; Attending Physician in Neonatalogy, Co-Director, Pediatric Pulmonary Hypertension Program, Ann and Robert H Lurie Children's Hospital of Chicago; Medical Staff, Prentice Women's Hospital-Northwestern Memorial Hospital

Nicolas FM Porta, MD is a member of the following medical societies: American Academy of Pediatrics

Disclosure: Received consulting fee for participating in a clinical study steering committee. for: United Therapeutics.

Specialty Editor Board

Mary L Windle, PharmD Adjunct Associate Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Nothing to disclose.

Arun K Pramanik, MD, MBBS Professor of Pediatrics, Louisiana State University Health Sciences Center

Arun K Pramanik, MD, MBBS is a member of the following medical societies: American Academy of Pediatrics, American Thoracic Society, National Perinatal Association, Southern Society for Pediatric Research

Disclosure: Nothing to disclose.

Chief Editor

Dharmendra J Nimavat, MD, FAAP Associate Professor of Clinical Pediatrics, Department of Pediatrics, Division of Neonatology, Southern Illinois University School of Medicine; Staff Neonatologist, Clinical Director, NICU Regional Perinatal Center, HSHS St John's Children's Hospital

Dharmendra J Nimavat, MD, FAAP is a member of the following medical societies: American Academy of Pediatrics, American Association of Physicians of Indian Origin

Disclosure: Nothing to disclose.

Additional Contributors

David N Sheftel, MD Assistant Professor of Pediatrics, Chicago Medical School at Rosalind Franklin University of Medicine and SciencE

David N Sheftel, MD is a member of the following medical societies: American Academy for Cerebral Palsy and Developmental Medicine, American Academy of Pediatrics

Disclosure: Nothing to disclose.

Ted Rosenkrantz, MD Professor, Departments of Pediatrics and Obstetrics/Gynecology, Division of Neonatal-Perinatal Medicine, University of Connecticut School of Medicine

Ted Rosenkrantz, MD is a member of the following medical societies: American Academy of Pediatrics, American Pediatric Society, Eastern Society for Pediatric Research, American Medical Association, Connecticut State Medical Society, Society for Pediatric Research

Disclosure: Nothing to disclose.