Gözdaşoğlu S, Cavdar A O, Arcasoy A, Babacan E, Sanal O
Acta Haematol. 1980;64(3):131-5. doi: 10.1159/000207225.
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.
共有18名年龄在5至13岁之间的患者,其中男性12名,女性6名,根据先天性异常、全血细胞减少、骨髓发育不全以及染色体和血液学分析,被诊断为患有范科尼贫血。在这一系列病例中,范科尼贫血的遗传和家族基础很明显。常见异常包括生长发育迟缓、牛奶咖啡斑、色素沉着、小头畸形、指骨畸形、智力障碍和性器官发育不全;在我们大多数病例中都检测到了染色体异常。大多数患者的骨髓中观察到肥大细胞。1例发展为急性粒单核细胞白血病。