Familial fanconis anemia with bowed and dysplastic right ulna bilateral thumb aplasia: a case report

Authors:Krishnappa J, Krishna Swamy , JR, Kadandale JS ,Dhananjaya CD
Int J Biol Med Res. 2012; 3(1): 1447-1449  |  PDF File

Abstract

We report a case of Fanconi anemia who presented with growth failure (short stature), bone marrow failure (pancytopenia- aplastic anemia), bilateral absent thumbs, absent right radius, bowed and dysplastic right ulna, café-au-lait spots, hyperpigmentation, and absent left kidney. Fanconi anemia ( FA) is a rare autosomal recessive disorder. It is the most commonly inherited constitutional aplastic anemia (1). Patients of FA typically have short stature, hyperpigmentation, skeletal malformations, progressive pancytopenia, increased risk of malignancy (2). Fanconi cells are characterized by chromosomal hypersensitivity to cross linking agents and the resulting increase in chromosomal breakage provides basis for the diagnostic test (3). Palliative therapy consists of treatment with androgens or oxymetholone and steroids. Corrective therapy is bone marrow transplantation and recent modalities of therapy include gene therapy using lenti virus or retro virus as vectors.