title: Neonatal manifestations of congenital dyserythropoietic anemia type I.
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.
authors.affiliation: Division of Pediatrics, Soraka Medical Center, Beer Sheva, Israel
authors.forename: H
authors.initials: H
authors.lastname: Shalev
authors.forename: H
authors.initials: H
authors.lastname: Tamary
authors.forename: D
authors.initials: D
authors.lastname: Shaft
authors.forename: P
authors.initials: P
authors.lastname: Reznitsky
authors.forename: R
authors.initials: R
authors.lastname: Zaizov
mesh_terms: D000742:Anemia, Dyserythropoietic, Congenital / Q000097:blood / Q000145:classification / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D000748:Anemia, Macrocytic / Q000473:pathology; D000751:Anemia, Neonatal / Q000175:diagnosis; D001803:Blood Transfusion; D001855:Bone Marrow Diseases / Q000097:blood / Q000235:genetics / Q000473:pathology; D003937:Diagnosis, Differential; D004909:Erythrocyte Indices; D004912:Erythrocytes / Q000473:pathology; D015672:Erythroid Precursor Cells / Q000473:pathology / Q000648:ultrastructure; D005500:Follow-Up Studies; D006400:Hematocrit; D006801:Humans; D007231:Infant, Newborn; D007236:Infant, Small for Gestational Age; D007567:Jaundice, Neonatal / Q000097:blood / Q000473:pathology; D008854:Microscopy, Electron; D017701:Reticulocyte Count; D012189:Retrospective Studies; D013576:Syndactyly / Q000473:pathology