A 5-year-old boy with malformed thumbs and microcephaly has been suffering from prolonged bleeding episodes, extreme fatigue, and persistent repetitive infections.His CBC reveals pancytopenia.Cytogenetic analysis shows increased chromosome breakage with the addition of diepoxybutane.Based on these findings, what is the patient most likely suffering from?

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The patient's symptoms and laboratory findings suggest Fanconi's syndrome, a rare genetic disorder characterized by bone marrow failure, physical abnormalities (such as malformed thumbs and microcephaly), and increased sensitivity to DNA-damaging agents (such as diepoxybutane). Prolonged bleeding episodes, extreme fatigue, and persistent repetitive infections are also common in Fanconi's syndrome. CDA II, Pure red cell aplasia, and Diamond Blackfan anemia are all types of bone marrow failure syndromes, but they are not associated with the specific findings seen in this patient.

A 5-Year-Old Boy with Malformed Thumbs and Microcephaly Has Been