Radial ray aplasia and renal anomalies in father and son: A new syndrome

We describe a father and his son with bilateral absence of radius and thumb. Both have short stature, external ear malformation, and renal anomaly. In the son a high frequency of chromosome breaks in lymphocytes was found. We compare this familial syndrome to Fanconi anemia and other radial ray aplasia syndromes and conclude that we are dealing with a different entity, which apparently is inherited as a dominant trait.