Unal Sule, Gumruk Fatma
Division of Pediatric Haematology, Hacettepe University Faculty of Medicine, 06100-Sihhiye Ankara, Turkey.
J Pediatr Hematol Oncol. 2006 Sep;28(9):616-7. doi: 10.1097/01.mph.0000212956.81468.2f.
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.
范可尼贫血是一种常染色体隐性疾病，其特征为骨髓衰竭、先天性身体异常多样、易患血液系统恶性肿瘤和多种实体瘤。最常伴发的先天性畸形是骨骼系统的畸形，主要是桡骨和拇指畸形。在此，我们报告一例双侧肩胛骨发育不全伴单侧翼状肩胛，并伴有脊柱侧弯和肋骨异常，这是范可尼贫血患者中一种此前未被报道的骨骼异常。
