Radial Hypoplasia

 

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Fanconi Pancytopenia

 

Fanconi pancytopenia - Patients have radial hypoplasia, characteristic facial appearance (microphthalmia, micrognathia, frontal bossing, broad nasal base, and epicanthal folds), skin hyperpigmentation, café au lait spots, and microcephaly. Neutropenia secondary to bone marrow failure occurs but T and B cell functions are preserved.