Fanconi's anemia in infancy. Report of a case diagnosed in the pre-anemic stage.
A 6 1/2-month-old girl is described, in whom the diagnosis of Fanconi's anemia in the pre-anemic stage was made on the basis of the following findings: growth failure, microcephaly, modest epicanthal folds, pigment spots, and chromosomal breaks. 4 months later progressive bone marrow failure developed and dramatically evolved into pancytopenia refractory to therapy.
D000741:Anemia, Aplastic / Q000175:diagnosis*; D001853:Bone Marrow / Q000473:pathology; D002869:Chromosome Aberrations; D005199:Fanconi Anemia / Q000175:diagnosis* / Q000235:genetics; D005260:Female; D006130:Growth Disorders / Q000175:diagnosis; D006801:Humans; D007223:Infant; D008831:Microcephaly / Q000175:diagnosis