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What is 2-year-old child presents with sho stature and cafe-au lait spots. Bone marrow aspiration yields a little material and mostly containing fat. What is your diagnosis: and explain in detail?
- All features given in the question suggests the diagnosis of Fanconi anemia Common physical findings in Fanconi Anemia (FA): - Skin pigment changes including Cafe-au-lait spots (55% cases) - Sho stature (in 50% cases) - Microcephaly - Thumb and radial malformations - Renal and cardiac malformations - Hypogonadism - Associated with Aplastic anemia.