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Distal limb anomalies in patients with congenital dyserythropoietic anemia. | LitMetric

AI Article Synopsis

  • Congenital dyserythropoietic anemias (CDAs) are rare genetic disorders that lead to ineffective red blood cell production and can cause secondary iron overload.
  • A case study highlights a patient with CDA type II and family members with CDA type III, all exhibiting unusual limb deformities such as syndactyly and other finger/toe abnormalities.
  • The findings suggest that distal limb anomalies may also occur in CDA types II and III, prompting a recommendation for further investigation in patients with anemia and such anomalies.

Article 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.

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Source
http://dx.doi.org/10.1002/ajmg.a.38012DOI Listing

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