ABSTRACT
Branchio-oto-renal syndrome is an inborn disease of autosomal dominant transmission and variable expression. The syndrome associates ear pits, branchial cleft fistulas or cysts, deafness and renal anomalies heavily compromising prognosis. We report four adults (2 males, 2 females) in three different families with branchio-oto-renal syndrome. All 4 probands were seen for renal failure, with hematuria in 2 and proteinuria in the 2 others. Among the 62 family members examined 19 had at least one sign of branchio-oto-renal syndrome. Four pregnancies were followed during the course of the study, only one reached term. The frequency of branchio-oto-renal syndrome is probably underestimated. Prevalence has been estimated at 1/40,000 births. It accounts for 2% of the cases of severe deafness in children. Neck and ear morphology should therefore be carefully examined in patients with renal or urinary tract dysplasia. Women with a mild form of the disease with moderate renal failure may give birth to an infant with very severe renal failure leading to death either in infancy or in utero due to severe renal agenesia or hypoplasia.
