Z. Tohidast Akrad,
Volume 7, Issue 1 (8 1994)
Fanconi syndrome was first described in 1927 by G.Fanconi. Fanconi syndrome with congenital aplastic anemia is a hereditary disorder in which peripheral blood Pancytopenia and bone marrow hypoplasiais often associated with multiple somatic congenital malformations such as microcephaly, skeletal anomalies (absence or hypoplasia of radial or thumb or both of them), brown hyperpigmentation of the skin and vision, hearing, kidney, genital or central nervous system disorders. In addition, Heredity pattern is autosomal recessive. Average age of disease manifestation is 4-7 years in the first decade of life and male are two times more likely suffered than women. In fact, Developed Pancytopenia is usually responsible for death. The average life expectancy after diagnosis of Fanconi syndrome is approximately 5 years.
