title: Distal limb anomalies in patients with congenital dyserythropoietic anemia.
abstract: The congenital dyserythropoietic anemias (CDAs) are a group of rare genetic disorders characterized by ineffective erythropoiesis and the development of secondary hemochromatosis. Distal limb anomalies are a well-documented though rare feature of congenital dyserythropoietic anemia type I, that have not been reported so far in other types. We describe a patient with congenital dyserythropoietic anemia type II and four members of a family with clinical features of congenital dyserythropoietic anemia type III with distal limb anomalies. The patient with congenital dyserythropoietic anemia type II presented with bilateral complete osseous syndactyly of the hands, and bilateral complete cutaneous syndactyly of feet. Three of the four affected family members with congenital dyserythropoietic anemia type III had partial absence of fingers, small or absent nails, overlapping toes, and short metatarsals. We suggest that similar to congenital dyserythropoietic anemia type I, distal anomalies may appear in some patients with congenital dyserythropoietic anemia types II and III. Patients presenting with anemia and distal limb anomalies should be further investigated for the presence of congenital dyserythropoietic anemia. © 2016 Wiley Periodicals, Inc.
authors.affiliation: Pediatric Gastroenterology, Hepatology and Nutrition Clinic, Dana-Dwek Children's Hospital, Tel-Aviv Medical Center, Tel Aviv, Israel.
authors.forename: Achiya Zvi
authors.initials: AZ
authors.lastname: Amir
authors.affiliation: Department of Radiology, Schneider Children's Medical Center of Israel, Petach Tikva, Israel.
authors.forename: Gadi
authors.initials: G
authors.lastname: Horev
authors.affiliation: Division of Hematology/Oncology, Schneider Children's Medical Center of Israel, Petach Tikva, Israel.|Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.
authors.forename: Joanne
authors.initials: J
authors.lastname: Yacobovich
authors.affiliation: Department of Hematology, Ha'Emek Medical Center, Afula, Israel.|Israel Institute of Technology-Technion, Haifa, Israel.
authors.forename: Michael
authors.initials: M
authors.lastname: Bennett
authors.affiliation: Division of Hematology/Oncology, Schneider Children's Medical Center of Israel, Petach Tikva, Israel.
authors.forename: Hannah
authors.initials: H
authors.lastname: Tamary
mesh_terms: D000483:Alleles; D000742:Anemia, Dyserythropoietic, Congenital / Q000175:diagnosis* / Q000235:genetics*; D005500:Follow-Up Studies; D056726:Genetic Association Studies; D005838:Genotype; D006801:Humans; D007223:Infant; D017880:Limb Deformities, Congenital / Q000175:diagnosis* / Q000235:genetics*; D008297:Male; D010375:Pedigree; D010641:Phenotype; D033921:Vesicular Transport Proteins / Q000235:genetics; D055815:Young Adult
chemical_list: C543353:SEC23B protein, human; D033921:Vesicular Transport Proteins
keywords: congenital dyserythropoietic anemia (CDA); limb anomalies