Fanconi Anemia (FA) syndrome is a heterogeneous syndrome of difficult diagnosis based on clinical features. We analyzed clinical data from 21 FA patients and 187 non-FA patients in order to find the existence of distinctive clinical features in our FA patients that could lead physicians to make an earlier diagnosis before the onset of hematological abnormalities. Our findings highlight the increased risk of FA in patients with skin pigmentation, microcephaly, upper limb malformations, growth retardation and renal defects with or without hematologic disease. Finally, our results suggest that a thorough clinical examination is critical to make an early diagnosis of FA and to provide accurate family counseling.
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