a perspective of fanconi anemia and its association with skeletal anomalies in northwestern iran

Background: fanconi anemia is the most common hereditary aplastic anemia characterized by progressive bone marrow deficiency, congenital anomalies, and an increased risk for leukemia. skeletal deformity is one of the primary manifestations before diagnosis and hematological disorder. methods: this study presents a perspective of fanconi anemia at its concomitant skeletal anomalies at a subnational level in northwestern iran. between 2000 and 2017, all records were collected in 3 provinces of northwest iran. results: overall, 64 patients (38 female (59.4%) and 26 male (40.6%)) with fanconi anemia in 3 provinces of northwestern of iran were identified. the mean age at the time of diagnosis was 6.6 ± 4.8 years. thirty - seven (57.8%) patients had skeletal deformity in their upper or lower limbs. the 3 most common anomalies, included microcephaly in 29 (45.3%), short stature in 27 (42.2%), and thumb anomalies in 22 (34.2%) patients. the association of the thumb anomalies with microcephaly and short stature was a significant association between them (chi - square test, p value 0.03; odds ratio 3.1 in 95% confidence interval 1.07 to 9.2). fourteen (21.9%) patients among the 37 patients with skeletal deformities sustained surgeries before the diagnosis of the disease. conclusions: a combination of the thumb anomalies and microcephaly should alert the physician to investigate further for a probable existence of fanconi anemia.