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Objective: Fanconi anemia is a severe and progressive genetic disease characterized by pancytopenia, a broad range of congenital abnormalities and marked predisposition to malignancy. In this study, the relationship between the clinical manifestations and diepoxybutane/mitomycin C (DEB/MMC) test results was investigated in a group of patients. In particular, the diagnostic significance of minor phenotypic findings was evaluated. Material and Methods: A total of 199 cases referred to our department with a diagnosis of Fanconi anemia between 1989 and 2004 were investigated retrospectively. Major and minor clinical findings specific to Fanconi anemia were evaluated in detail. The correlation between chromosomal break ratios occurring either spontaneously or with DEB/MMC induction in lymphocyte cultures from peripheral blood or bone marrow samples and the frequency of phenotypic findings were analyzed with chi-square test and logistic regression. Results: Among 199 patients diagnosed with Fanconi anemia, 117 (58.8%) were DEB/MMC (+). Ocular abnormalities, mainly microphtalmia, [31 patients (26.5%) DEB/MMC (+) vs 2 patients (2.5%) DEB/MMC (-)] were the most significant finding followed by café au lait spots [67 patients (57.3%) DEB/MMC (+) vs 15 patients (18.3%) DEB/MMC (-)] and thumb anomalies [52 patients (44.5%) DEB/MMC (+) vs 8 patients (9.8%) DEB/MMC (-)] for the diagnosis of Fanconi anemia. In this study, the two major findings of Fanconi anemia, anemia and growth retardation did not contribute to the logistic regression model for the specific diagnosis of the disease. Conclusion: Characteristic findings in Fanconi anemia may lead to diagnosis. However, in certain conditions where classical clinical manifestations are not present it would be particularly important to evaluate the individual malformations, which may be of value for the diagnosis of Fanconi anemia patients during the pre-anemia stage.

An Evaluation of the Phenotypic Features of Fanconi Anemia Together with DEB/MMC Positivity in 199 Turkish Patients