Fanconi Anaemia is not a cancer, though recent research has shown an Association Francaise de La maladie de Fanconi – Français – Translate to English . Archives de pédiatrie – Vol. 13 – N° 9 – p. – Discussion nosologique entre dyskératose congénitale et maladie de Fanconi: à propos de 1 cas. La maladie de Fanconi ou l’anémie de Fanconi (AF) est un syndrome génétique humain rare à hérédité récessive, caractérisé par un phénotype extrêmement.
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Based on a case report of aplastic anemia associated with malformation, we discuss the diagnostic criteria and the nosologic problem between the 2 principal aplastic anemia accompanied with malformation: Fanconi disease and dyskeratosis congenita.
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A year-old girl, issued from a third degree consanguineous marriage, was admitted because of anemic and hemorrhagic syndrome. Physical examination showed several malformations: Statural and ponderal retardation were noted. On the hemogram there was a pancytopenia and on biopsy, the bone marrow was desertic.
The caryotype performed on peripheral blood lymphocytes after sensibilisation with mitomycin C revealed chromosomal instability aspects.
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Based on these clinical and biological features, the diagnosis of hereditary aplastic anaemia was retained. The patient was given norethandrolone.
She died 3 months later by septic shock. Coexistence of aplastic anemia with a malformative syndrome suggests most probably an hereditary form of aplastic anemia.
Fanconi anemia is the most frequent. It associates characteristic anomalies of the face, with microphtalmia, brownish spots, statural and ponderal retardation, and thumb anomalies. Ungueal dystrophy, mucosal leucoplasia are almost pathognomonic of congenital dyskeratosis. When the malformative syndrome is not characteristic, the cytogenetic study malwdie also fail to make the differential diagnosis, as was the situation in our case.
Aplastic anemia, Fanconi anemia, Fancconi congenita. Journal page Archives Contents list. Access to the text HTML.
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If you want to subscribe to this journal, see our rates You can purchase this item in Pay Per View: Nosologic discussion between Fanconi disease and congenital dyskeratosis: Ben Aribia aR. Horchani bM. Elloumi aH. Elghezal cT.
L’anémie de Fanconi : gènes et fonction(s) revisités
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