Hasan R, Inoue S
Department of Pediatrics, Hurley Medical Center, Flint, Michigan.
Pediatr Hematol Oncol. 1993 Jul-Sep;10(3):261-5. doi: 10.3109/08880019309029494.
We describe a 2-year-old girl with a rare combination of congenital red cell aplasia or Diamond-Blackfan anemia (DBA) and Treacher-Collins syndrome (TCS). The anemia is only marginally responsive to high-dose corticosteroid, and the child is transfusion dependent. There is no one in the family affected with either DBA or TCS. A hypothesis is advanced that the simultaneous occurrence of the dysmorphism and erythroid agenesis in this case may have been the consequences of an insult to the fetus at the critical stage of development of maxillomandibular structure and the stage of primitive erythroid cell migration from the yolk sac to the fetal liver and bone marrow.
我们描述了一名2岁女童，患有先天性红细胞再生障碍或钻石黑范贫血（DBA）与特雷彻·柯林斯综合征（TCS）的罕见组合。该贫血对高剂量皮质类固醇仅有轻微反应，患儿依赖输血。家族中无人患有DBA或TCS。我们提出一个假说，即该病例中畸形与红系发育不全同时出现，可能是在颌面部结构发育的关键阶段以及原始红细胞从卵黄囊迁移至胎儿肝脏和骨髓的阶段，胎儿受到损伤的结果。
