Renal anomalies and oligohydramnios in the cerebro-oculofacio-skeletal syndrome

Abstract

We describe two infants with the cerebro-oculofacio-skeletal syndrome in whom oligohydramnios is an additional finding. The oligohydramnios could be accounted for in one by renal agenesis but cannot in the other, who had a functioning and histologically normal kidney. The diagnosis of Potter syndrome was suspected in both patients. It is important in counseling to recognize the distinctive phenotype of this autosomal-recessive syndrome.