The defect on the anterior abdominal wall in cases of exomphalos lies in the midline. Viscera herniate through this defect but remain contained within an avascular hernial sac comprising peritoneum and amniotic membrane (Figure 2.8). The size of the defect and hence the size of the sac may vary from a small swelling at the base of the umbilical cord (exomphalos minor) to a much larger sac containing liver and a large proportion of the small intestine (exomphalos major). The embryological origins of exomphalos are believed to be failure of complete closure of the anterior abdominal wall around a persistent body stalk. Visceral contents continue to develop within this body stalk and thus remain outside the abdominal cavity. Whilst the precise etiology of exomphalos is not clear, it is well recognized that exomphalos often co-exists with a number of other congenital abnormalities and this may suggest at least in part a genetic component. Associated abnormalities include Beckwith-Wiedemann syndrome, the trisomies 13, 18 and 21 and the upper and lower midline associations.
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