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Fanconi anemia

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Fanconi anemia

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High Yield Notes
5 pages
Questions

USMLE® Step 1 style questions USMLE

2 questions
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A 16-month-old boy is brought by his parents to the pediatrician’s office to establish care. The patient’s family recently immigrated from Eastern Europe, and medical records are not available. The mother notes that the patient has not been growing as quickly as his siblings grew. In the office, the patient’s temperature is 37.5°C (99.5°F), blood pressure is 105/62 mmHg, pulse is 100/min, and respirations are 28/min. Physical exam reveals hyperpigmented spots on the patient’s body and hypoplastic thumbs. The patient’s height, weight, and head circumference are below the 3rd percentile. Laboratory testing reveals the following results:  
 

 Laboratory value  Result 
 Hemoglobin  8.1 g/dL 
 Leukocyte  2,300/mm3 
 Platelet  65,000/mm3 
 Mean Corpuscular Volume  109 mm3 
The patient’s condition is most likely due to a defect involving which of the following processes?

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Summary

Fanconi anemia (FA) is an autosomal recessive disorder in which there is decreased production of red blood cells (anemia), white blood cells, and platelets due to bone marrow failure. This can cause problems with the immune system, increase the risk of infection, and can lead to bleeding problems. People with FA may also have stature, upper limb malformations, and an increased incidence of acute myeloid leukemia.