Le Merrer M, Girot R, Parent P, Cormier-Daire V, Maroteaux P
Unité de Recherches sur les Handicaps Genétiques de l'Enfant, INSERM U. 393, Hôpital des Enfants Malades, Paris, France.
Eur J Pediatr. 1995 May;154(5):384-8. doi: 10.1007/BF02072110.
The term congenital dyserythropoietic anaemia (CDA) designates a group of rare but well defined erythrocytic disorders. Type I is defined by macrocytosis and megaloblastic changes of the bone marrow cells. Two unrelated children with CDA are described with associated defects: absence of nails and short or absent phalanges, polysyndactyly of the fourth metacarpal. One of them had also areas of depigmentation.
The association of congenital dyserythropoietic anaemia with morphological defects of hands and feet is suggested to constitute a new syndrome caused by a single morphogenetic gene.
先天性红细胞生成异常性贫血（CDA）一词指的是一组罕见但定义明确的红细胞疾病。I型由大红细胞症和骨髓细胞的巨幼样改变定义。本文描述了两名患有CDA的不相关儿童及其相关缺陷：无指甲、指骨短或缺失、第四掌骨多指畸形。其中一名儿童还有色素脱失区域。
先天性红细胞生成异常性贫血与手足形态学缺陷的关联被认为构成一种由单个形态发生基因引起的新综合征。
