Examophalos (Omphalocoele)

Abstract

Ventral body wall defects comprise a group of congenital malformations that includes congenital umbilical cord hernia, gastroschisis and omphalocele, which are relatively common, and ectopia cordis, bladder exstrophy and cloacal exstrophy, which are relatively rare, along with another extremely rare defect which was only present as a case report in literature, such as body stalk anomalies, vesico-intestinal fissure, sternal defect and OEIS syndrome.

Recently, there is an increase in the occurrence of gastroschisis; cases with omphalocele had more syndromic and nonsyndromic anomalies, more chromosomal anomalies, a higher mortality rate and more common with an older mothers. The natural history of omphalocele and gastroschisis covaries with race, black infants with gastroschisis have worse survival outcomes, while those with omphalocele have better chances of survival than their White or Hispanic counterparts. Gastroschisis and omphalocele are the two most common congenital abdominal wall defects; both are frequently detected prenatally. Prognosis for gastroschisis is primarily determined by the degree of bowel injury, whereas prognosis for omphalocele is related to the number and severity of associated anomalies. The surgical management of both conditions consists of closure of the abdominal wall defect while minimizing the risk of injury to the abdominal viscera either through direct trauma or due to increased intra-abdominal pressure. Options include primary closure or a variety of staged approaches. Long-term outcome is favourable in most cases; however, significant associated anomalies (in the case of omphalocele) or intestinal dysfunction (in the case of gastroschisis) may result in morbidity and mortality.

Cases of congenital hernia of the cord are usually unrecognizable or misdiagnosed as an examophalos minor, so this entity discussed separately with special emphasis about the proper diagnosis of the classical cases and their variants.