Arm anomalies and bone marrow failure may go hand in hand

Children with congenital anomalies involving the hand, the forearm, or both are often seen by hand surgeons. An unknown proportion have inherited bone marrow-failure syndromes, such as Fanconi's anemia, Diamond-Blackfan anemia, thrombocytopenia-absent radii, and others. In many cases the hematologic cytopenias are not yet apparent at the time of surgery. This review discusses these syndromes, summarizing the types of malformation, the types of hematologic complication, and the ages at which they occur. There are often clues in otherwise normal hematologic data, such as macrocytic red cells or slow decreases in blood counts that are still at a level at which surgery can be performed. Early and often presymptomatic diagnosis is of value for the planning of staged surgery before cytopenias preclude intervention, the performance of surgery after hematologic improvements, and genetic counseling for young families in which syndromes with a known inheritance pattern might be detected in utero. Hand surgeons may be the first to make these important diagnoses.