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Multiple congenital malformations

Last reviewed dd mmm yyyy. Last edited dd mmm yyyy

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Multiple malformations, or combinations of major and minor abnormality, occur in 0.7% of neonates. In the majority the combination is random, but for some the pattern is predictable and can be identified as a discrete syndrome.

Sequences are a series of abnormality that can be causally related to a primary malformation, eg, the Potter sequence secondary to renal agenesis.

In an association, there is a non-random combination of two or more structural defects which are not due to a localized defect of embryogenesis, eg, the Vater association.

Computerised databases are now available to trace the pattern of rarer associations and sequences.

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