Fanconi's aplastic anemia, analysis of 18 cases.
A total of 18 patients within the age range of 5-13 years, 12 male and 6 female, are diagnosed as having Fanconi's aplastic anemia on the basis of congenital abnormalities, pancytopenia, bone marrow hypoplasia, and chromosomal and hematologic analysis. The hereditary and familial basis of Fanconi's aplastic anemia was apparent in this series. Common abnormalities were growth retardation, café au lait spots, hyperpigmentations, microcephaly, phalange deformities, mental retardation, and hypogenitalism; chromosome abnormalities were detected in the majority of our cases. Mast cells were observed in the bone marrow in most of the patients. 1 case developed acute myelomonocytic leukemia.
D000015:Abnormalities, Multiple / Q000453:epidemiology; D000293:Adolescent; D000741:Anemia, Aplastic / Q000235:genetics; D001853:Bone Marrow / Q000473:pathology; D002648:Child; D002675:Child, Preschool; D002869:Chromosome Aberrations / Q000453:epidemiology; D025063:Chromosome Disorders; D005199:Fanconi Anemia / Q000150:complications / Q000235:genetics / Q000473:pathology; D005260:Female; D006801:Humans; D015470:Leukemia, Myeloid, Acute / Q000150:complications; D008297:Male; D008407:Mast Cells / Q000473:pathology; D010375:Pedigree