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Down syndrome and omphalocele: an underrecognized association.

Omphalocele is associated with Down syndrome,1 and the concurrence of omphalocele and Down syndrome has been reported several times.1-8 However, these observations are not noted in standard genetic reference books (such as references 9 through 15), genetic databases (such as POSSUM), or pediatric textbooks (such as references 16 through 18). We report a further case of omphalocele associated with Down syndrome, in which the presence of this "atypical" major anomaly, combined with initially good muscle tone and marked but transient facial edema, led to a brief delay in recognizing the clinical diagnosis of Down syndrome. CASE REPORT The propositus was born to a 33-year-old, gravida 2, para 1 woman via primary cesarean section for face presentation after a 41-week pregnancy that was complicated by maternal hypertension and by premature onset of labor early in the third trimester, controlled by bed rest.