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

The authors 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. They compare this familial syndrome to Fanconi anemia and other radial ray aplasia syndromes and conclude that they are dealing with a different entity, which apparently is inherited as a dominant trait.