Bilateral renal agenesis (Potter's syndrome) in two consecutive infants

Bilateral renal agenesis is a relatively rare congenital anomaly; its frequency is 1 : 3000-4000 deliveries, with a remarkable predominance of male infants. This anomaly is most often found in combination with characteristic facial features ('Potter's face') and pulmonary hypoplasia, the combination being known as Potter's syndrome. In the course of pregnancy an increasing oligohydramnios becomes manifest; during labor, virtual absence of amniotic fluid is found in most cases. This oligohydramnios should alert the obstetrician to suspect Potter's syndrome; serial ultrasonography may confirm the diagnosis. Most affected children are born alive but die within a few hours due to respiratory difficulties caused by the pulmonary hypoplasia. Despite the remarkable facial characteristics of these infants, it was only in a small minority that the diagnosis was considered before autopsy. This stresses the need for a full post-mortem examination in all cases of perinatal death. The etiology is still uncertain, though multifactorial inheritance is the most likely. As a consequence, the recurrence risk is not negligible; the small number of 'familial occurrence' observations, however, does not allow estimation of a risk figure. Genetic counseling is indicated in any family giving birth to a child with bilateral renal agenesis. A family is described in which two consecutive male infants with bilateral renal agenesis were born alive and survived 19 and 38 h.