Pignatti C B, Bianchi E, Polito E
Helv Paediatr Acta. 1977 Nov;32(4-5):413-8.
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.
本文描述了一名6个半月大的女孩，根据以下表现，在贫血前期诊断为范可尼贫血：生长发育迟缓、小头畸形、轻度内眦赘皮、色素斑和染色体断裂。4个月后，进展性骨髓衰竭出现，并急剧发展为难治性全血细胞减少。
