ABSTRACT

Nijmegen breakage syndrome is a very rare, autosomal recessively inherited genetic disease. It is among a group of diseases named “chromosomal instability syndromes”. It is clinically characterized with microcephaly, a facial appearance named also as “bird face”, growth retardation, immune deficiency, increased sensitivity to ionizing radiation and alkylating agents and a predisposition particularly to lymphoid malignancies. Mutations in the NBS1 gene localized in the 8q21 band are responsible for Nijmegen breakage syndrome. We herein present a case who had been referred to our center with a presumptive diagnosis of Fanconi anemia and was diagnosed to have Nijmegen breakage syndrome to emphasize the necessity of carefulness in the differential diagnosis because of its clinical and biological aspects similar to Fanconi anemia, and its rare frequency.