Major malformations of the urinary tract. Anatomic and genetic aspects

This paper outlines the problem of major malformations of the urinary tract, their frequency and their etiology. It is based on data analysis of 900 neonatal autopsies performed in our center from 1978 to 1987. These major malformations are often lethal and they can essentially be separated into disorders of the kidney and malformations of the lower urinary tract. Single-gene disorders are often seen in the former whereas the second group is more likely to be multifactorially controlled. We do insist on the importance of a strict collaboration between pathologists and geneticists.