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- W2035430123 abstract "Fanconi’s anemia is a rare autosomal recessive disorder characterized by pancytopenia, progressive bone marrow hypoplasia, chromosomal aberrations, and a multitude of congenital anomalies. It was first described by Fanconi’ in 1927 when he reported three brothers with a progressive lethal anemia. Fanconi’s anemia should be differentiated from Fanconi’s syndrome, which is a proximal renal tubular disorder. According to Glanz,2 congenital malformations can affect the skeletal, ocular, auditory, renal, genital, and central nervous systems (Table 1). Affected persons may have anomalies involving any combination of these systems or, in some cases, may have none of these malformations. Because of the variation and number of malformations, it has not been possible to establish precise diagnostic criteria based on a patient’s clinical presentation. The frequency of occurrence of Fanconi’s anemia is estimated to be one in 360,000, but only about 300 cases have been reported in the literature.’ The male to female ratio is reported to be 2: 1 .4 The diagnosis is usually made in the first decade of life, between the ages of 4 and 7 years, with the typical patient dying of bone marrow complications within the first two decades of life. Most patients, however, succumb within 5 years of the onset of anemia. Fanconi’s anemia has been grouped with other inheritable genetic disorders that involve chromosomal aberrations and are known to cause patients to have a" @default.
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- W2035430123 date "1992-03-01" @default.
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- W2035430123 title "Hematologic management of a patient with Fanconi's anemia undergoing bone grafting and implant surgery" @default.
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- W2035430123 doi "https://doi.org/10.1016/0278-2391(92)90329-x" @default.
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