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What is a distinguishing feature of Fanconi anemia in neonates?

  1. Presence of characteristic skin lesions

  2. Thrombocytopenia

  3. Increased risk of infections

  4. Anemia requiring transfusion

The correct answer is: Thrombocytopenia

Thrombocytopenia serves as a distinguishing feature of Fanconi anemia in neonates due to its impact on hematopoiesis, leading to a significant reduction in platelet production. This condition is a rare genetic disorder characterized by bone marrow failure and is commonly associated with other hematological abnormalities. In infants with Fanconi anemia, the decreased platelet count can increase the risk of bleeding and bruising, which is a clinical hallmark that can prompt further investigation. While the presence of characteristic skin lesions, increased risk of infections, and anemia requiring transfusion may also occur in various conditions, they are not as directly linked or distinctive in the neonates with Fanconi anemia as thrombocytopenia. Skin lesions might be observed in other syndromes, and the risk of infections can be influenced by multiple factors beyond just hematologic issues. Similarly, while anemia may manifest, the specific reference to thrombocytopenia clearly ties into the diagnostic criteria and concerns unique to Fanconi anemia in the neonatal population.