Amegakaryocytic Thrombocytopenia and Bilateral Absence of the Radii

Abstract

It has been implied that congenital amegakaryocytic thrombocytopenia associated with bony deformities, particularly bilateral absence of the radii, is related to Fanconi's syndrome. However, this combination of congenital defects warrants consideration as a separate clinical entity, since at least 10 such cases have been reported. Treatment is difficult and is generally supportive. Adrenocorticosteroids and testosterone have given beneficial results in some cases, but not in the case reported here. Results of splenectomy have been favorable in a few cases; however, the authors do not enthusiastically recommend this procedure.