Diamond-Blackfan anemia associated with Treacher-Collins syndrome

We describe a 2-year-old girl with a rare combination of congenital red cell aplasia or Diamond-Blackfan anemia (DBA) and Treacher-Collins syndrome (TCS). The anemia is only marginally responsive to high-dose corticosteroid, and the child is transfusion dependent. There is no one in the family affected with either DBA or TCS. A hypothesis is advanced that the simultaneous occurrence of the dysmorphism and erythroid agenesis in this case may have been the consequences of an insult to the fetus at the critical stage of development of maxillomandibular structure and the stage of primitive erythroid cell migration from the yolk sac to the fetal liver and bone marrow.