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  • Title: Neonatal manifestations of congenital dyserythropoietic anemia type I.
    Author: Shalev H, Tamary H, Shaft D, Reznitsky P, Zaizov R.
    Journal: J Pediatr; 1997 Jul; 131(1 Pt 1):95-7. PubMed ID: 9255198.
    Abstract:
    Congenital dyserythropoietic anemia type I is a rare inherited bone marrow disorder characterised by macrocytic anemia with pathognomonic morphological ultrastructural features in erythroid precursors. The disease is usually not diagnosed in the neonatal period. In a retrospective study of 31 patients we found that 17 were first seen in the neonatal age with significant anemia (birth hematocrit 0.34 +/- 0.07); 14 of the 17 infants also had early jaundice. Six infants were small for gestational age and two had syndactyly. Although rare, congenital dyserythropoietic anemia type I should be considered in the differential diagnosis of neonatal anemia.
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