A case of congenital diaphragmatic hernia, limb‑reduction defects and other abnormalities

Abstract

Congenital diaphragmatic hernias are usually an isolated finding, though other malformations and syndromes may also be present, including limb-reduction defects in up to 13.1% of infants. These defects often occur in the upper limb and on the ipsilateral side of the hernia. This association between congenital diaphragmatic hernias and limb-reduction defects suggests a developmental relationship, where both organs are either affected during the same embryological period or by the same factor/s (genetic and environmental/teratogenic).