中国当代儿科杂志2024，Vol.26Issue(4)：410-413,4.DOI:10.7499/j.issn.1008-8830.2311058
血细胞减少伴多发畸形2例
Two cases of cytopenia associated with multiple malformations
摘要
Abstract
The first patient,a 10-year-old girl,presented with pancytopenia and recurrent epistaxis,along with a history of repeated upper respiratory infections,café-au-lait spots,and microcephaly.Genetic testing revealed compound heterozygous mutations in the DNA ligase Ⅳ(LIG4)gene,leading to a diagnosis of LIG4 syndrome.The second patient,a 6-year-old girl,was seen for persistent thrombocytopenia lasting over two years and was noted to have short stature,hyperpigmented skin,and hand malformations.She had a positive result from chromosome breakage test.She was diagnosed with Fanconi anemia complementation group A.Despite similar clinical presentations,the two children were diagnosed with different disorders,suggesting that children with hemocytopenia and malformations should not only be evaluated for hematological diseases but also be screened for other potential underlying conditions such as immune system disorders.[Chinese Journal of Contemporary Pediatrics,2024,26(4):410-4131关键词
血细胞减少/畸形/范可尼贫血/LIG4综合征/儿童Key words
Cytopenia/Malformation/Fanconi anemia/LIG4 syndrome/Child引用本文复制引用
常丽贤,张丽,高怡曼,竺晓凡..血细胞减少伴多发畸形2例[J].中国当代儿科杂志,2024,26(4):410-413,4.基金项目
国家重点研发计划(2019YFA0110803). （2019YFA0110803）
