Fanconi's anemia

• Facts:
  AR, genetic disorder (chromosomal breaks, DNA repair problem) that causes congenital marrow failure, poor growth, and morphologic abnormalities
  
  Initial manifestation is usually thrombocytopenia, followed by neutropenia, then anemia
  
  Blood counts start to decrease between 4 and 12 years of age
• History / PE:
  Short stature
  Cafe-au-lait spots, hyperpigmentation of the trunk
  Horseshoe kidneys
  "Pounding in ears"
  Radial/thumb hypoplasia/aplasia
• Diagnosis:
  Progresssive pancytopenia and MACRO- cytosis
  Aplastic anemia
• Treatment:
  Hematopoietic stell cell transplantation ( aplastic anemia )
• Complications:
  Acute myelogenous leukemia (AML)
• Differential Diagnosis:
  Aplastic anemia
  Diamond-Blackfan anemia (triphalangeal thumb, pure RBC aplasia)