Congenital Amegakaryocytic Thrombocytopenia with Congenital Deformities and a Leukemoid Blood Picture in the Newborn

Two infants with absent radii are described. Both had hemorrhagic manifestations which occurred within 24 hours of birth, and from which they eventually died.

The most important hematologic feature was absence of megakaryocytes in the bone marrow.

Five cases showing a similar picture have been recorded, four as amegakaryocytic thrombocytopenia, and one as congenital leukemia.

It is suggested that these cases are related on the one hand to Fanconi’s anemia, and on the other to congenital leukemia.