title: Congenital diserythropoietic anemia type I. Report on monozygotic twins with associated hemochromatosis and short stature.
abstract: We report the first occurrence of congenital dyserythropoietic anemia type I in monozygotic twins and the seventh familial occurrence to our knowledge. Mild hemochromatosis is present in the two children but has not yet required iron chelation. Moderate growth retardation, which seems to be related to pituitary failure, is also present.
authors.affiliation: Service des Maladies du Sang, Hôpital Claude Huriez, Lille, France.
authors.forename: T
authors.initials: T
authors.lastname: Facon
authors.forename: L
authors.initials: L
authors.lastname: Mannessier
authors.forename: P
authors.initials: P
authors.lastname: Lepelley
authors.forename: J
authors.initials: J
authors.lastname: Weill
authors.forename: P
authors.initials: P
authors.lastname: Fenaux
authors.forename: B
authors.initials: B
authors.lastname: Dupriez
authors.forename: P
authors.initials: P
authors.lastname: Morel
authors.forename: J P
authors.initials: JP
authors.lastname: Jouet
mesh_terms: D000742:Anemia, Dyserythropoietic, Congenital / Q000145:classification / Q000150:complications / Q000235:genetics*; D002675:Child, Preschool; D004200:Diseases in Twins / Q000235:genetics*; D006130:Growth Disorders / Q000150:complications; D006432:Hemochromatosis / Q000150:complications; D006801:Humans; D008297:Male