What s Your Diagnosis?: A 15-year-old girl with pancytopenia and congenital defects

A 15-year-old girl was referred to our hospital because of lethargy, palpitation and headache. Physical examination revealed a girl with short stature, café-au-lait spots, and left thumb abnormality. The hematologic parameters of the patient included hemoglobin 5.5 g/dL, WBC 2.96×109/L, platelets 38×109/L, and mean corpuscular volume 100 fL. Radiologic examination of the hands and abdomen revealed abnormal findings that gave a clue to the diagnosis