Diamond-Blackfan Syndrome( Congenital hypoplastic anemia)
Intrinsic defect of erythroid progenitor cells
3 months of age
Macrocytic anemia
Low reticulocyte count
Congenital abnormalities:
Short stature
Webbed neck
Shielded chest
Cleft lip
Tri-phalangeal thumbs
Rx: corticosteroids, transfusion in patients with no response to steroids.
