Fanconi anemia patient with bilaterally hypoplastic scapula and unilateral winging associated with scoliosis and rib abnormality

Abstract

Fanconi anemia is an autosomal recessive disease characterized by bone marrow failure, variable congenital physical abnormalities, and predisposition to hematologic malignancy and several solid tumors. The most frequently associated congenital malformations are those of the skeletal system, mainly radius and thumb. Herein, we report bilaterally hypoplastic scapula with unilateral winging associated with scoliosis and rib abnormality, a previously unreported skeletal abnormality in Fanconi anemia patients.