Pediatric Congenital Diaphragmatic Hernia Clinical Presentation

Updated: Dec 22, 2020
  • Author: Robin H Steinhorn, MD; Chief Editor: Dharmendra J Nimavat, MD, FAAP  more...
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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.