Syndromes Associating Anemia or Thrombocytopenia and Skeletal Defects

There are a group of congenital syndromes associating anemia or thromocytopenia and skeletal defects. The main syndromes are Blackfan-Diamond anemia, Fanconi anemia, and TAR syndrome. Prenatal diagnosis is possible sometimes for a severe antebrachial bone hypoplasia. However, other syndromes that can be associated with anemia in uterus, or in the neonatal period, are characterized above all by hepatomegaly and/or splenomegaly, with skeletal anomalies not detectable with ultrasound, such osteopetrosis.