[Informative morphogenetic variants--guidelines for the diagnosis of major malformations].

UNLABELLED

Informative morphogenetic variants are present both in healthy population and in certain diseases and genetic syndromes. They are defined as "structural anomalies with no medical or aesthetic consequences" (1) or "unusual morphologic features with no relevant medical or cosmetic consequences on the carrier" (2). The investigation was initiated when evidences from the foreign literature were found suggesting that children with polythelia more frequently show hereditary and acquired urinary tract malformations than in general population, that is, in children with no IMV.

OBJECTIVE

to determine the correlation between the onset of polythelia and hereditary and acquired urinary tract major malformations. On the basis of the results and the discussion we might conclude the following: among the children with polythelia a statistically significant majority has hereditary and acquierd urinary tract major malformations when compared to those with no IMV.