Medical MCQ-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:

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:

Fanconi anemia

Dyskeratosis congenita

Tuberous sclerosis

Osteogenesis imperfecta

Question Category:

Pediatrics

Correct Answer:

Fanconi anemia

Description:

- 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.

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