Suppr超能文献

范科尼贫血:18例分析

Fanconi's aplastic anemia, analysis of 18 cases.

作者信息

Gözdaşoğlu S, Cavdar A O, Arcasoy A, Babacan E, Sanal O

出版信息

Acta Haematol. 1980;64(3):131-5. doi: 10.1159/000207225.

Abstract

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.

摘要

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。

文献检索

告别复杂PubMed语法,用中文像聊天一样搜索,搜遍4000万医学文献。AI智能推荐,让科研检索更轻松。

立即免费搜索

文件翻译

保留排版,准确专业,支持PDF/Word/PPT等文件格式,支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述,25分钟生成高质量综述,智能提取关键信息,辅助科研写作。

立即免费体验