[Constitutional aplastic pancytopenia in children (author's transl)].
Constitutional aplasia of the bone marrow is a general term which designates familial aplastic pancytopenias with recessive autosomal transmission. They are rare and often associated with malformations which are of great diagnostic value. The Fanconi syndrome is a well individualized form in which aplasia of the bone marrow is combined with various malformations which are of great diagnostic value. The Fanconi syndrome is a well individualized form in which aplasia of the bone marrow is combined with various malformations, particularly skeletal, cutaneous and renal. Cytogenic lymphocyte analysis shows an abnormal tendency to chromosomal breakage which is increased after incubation with alkylating agents. Bone marrow transplantation is the only available therapy for these constitutional aplasias.
D000741:Anemia, Aplastic / Q000235:genetics*; D001855:Bone Marrow Diseases / Q000235:genetics* / Q000628:therapy; D002869:Chromosome Aberrations; D005199:Fanconi Anemia / Q000235:genetics* / Q000628:therapy; D006801:Humans
Les aplasies médullaires d'origine constitutionnelle et leur traitement.