Fanconi Pancytopenia

 

 

Patients have a characteristic facial appearance which includes microphthalmia, micrognathia, frontal bossing, broad nasal base, and epicanthal folds.  Additional features include skin hyperpigmentation, café au lait spots, radial hypoplasia, and microcephaly.  Neutropenia secondary to bone marrow failure occurs but T and B cell functions are preserved.   

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Fanconi Pancytopenia