[Congenital aplastic anemia-Fanconi].
Results of the investigation of 3 children aged from 2 to 7,5 with diagnosed aplastic anemia of Fanconi type are presented. Two children were females and one child was a male. Their illness symptoms appeared at the age of one, three and four respectively. All three patients had similar symptomes: palenes, tiredness, epistaxis, appearance of hemorrhagic syndrome and delayed growth. The following anomalies were also present: small size, microcephaly, mandibular hypoplasia, high palate and malformation of the urinary tract. In one child ductus Botalli persistens was also revealed. The laboratory findings showed presence of pancytopenia of the blood and increased level of both iron and erythropoietin in the serum. The karytype of two children revealed several cells with broken chromatin and with polyploid and tetraploid cells. The meiogram showed presence of all cells in bone marrow but in lowered number. Celularity I.
D000741:Anemia, Aplastic / Q000175:diagnosis*; D002648:Child; D002675:Child, Preschool; D005199:Fanconi Anemia / Q000175:diagnosis*; D005260:Female; D006801:Humans; D008297:Male
Urodena aplazna anemija-Fanconi.