Diamond-Blackfan syndrome is a rare bone marrow failure involving the erythropoietic lineage and usually diagnosed in the first year of life. About 80% of cases are sporadic but there are examples of recessive and dominant inheritance. Whether the variable pattern of inheritance observed in pedigrees of Diamond-Blackfan syndrome reflects different genetic determinants of the disease remains uncertain. Family studies with use of the newer tools of molecular biology will produce improved insight into the genetic origin of this disease. A review of pregnancy associated Diamond-Blackfan syndrome indicated an increase in pregnancy complications. It appears that pregnancies are usually well tolerated and can be managed with supportive care and blood transfusions.