Which genetic abnormalities are common in pediatric omphalocele and gastroschisis (abdominal wall defects)?

Updated: Nov 05, 2019
  • Author: James G Glasser, MD, MA, FACS; Chief Editor: Dharmendra J Nimavat, MD, FAAP  more...
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Answer

The association of chromosomal defects with omphalocele varies between 10% and 50%. Trisomy 12, 13, 15, 18, and 21, as well as Beckwith-Wiedemann syndrome are the most frequently encountered genetic abnormalities.

Genetic abnormalities occur infrequently in babies with gastroschisis; however, these infants must contend with malabsorption, intestinal dysmotility, gastroesophageal reflux disease and, occasionally, Hirschsprung disease.


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