These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


Pubmed for Handhelds

PUBMED FOR HANDHELDS

Search MEDLINE/PubMed

  • Title: Distal limb anomalies in patients with congenital dyserythropoietic anemia.
    Author: Amir AZ, Horev G, Yacobovich J, Bennett M, Tamary H.
    Journal: Am J Med Genet A; 2017 Feb; 173(2):487-490. PubMed ID: 27759939.
    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.
    [Abstract] [Full Text] [Related] [New Search]