Two cases of congenital dyserythropoietic anaemia type I associated with unusual skeletal abnormalities of the limbs.

Brichard, Bénédicte;Vermylen, Christiane;Scheiff, Jean-Marie;Michaux, Jean-Louis;Cornu, Guy;et.al.
(1994) British Journal of Haematology — Vol. 86, n° 1, p. 201-202 (1994)

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Authors
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  • Vermylen, ChristianeUCLouvain
    Author
  • Scheiff, Jean-MarieUCLouvain
    Author
  • Michaux, Jean-LouisUCLouvain
    Author
  • Cornu, GuyUCLouvain
    Author
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Abstract
This report describes the cases of two young female patients with congenital dyserythropoietic anaemia (CDA) type I who presented similar hand and foot skeletal abnormalities: lack of distal phalanges and nails, and syndactyly. Up to now, some morphological malformations have been described in association with CDA type I but there is no report of skeletal defects. These two cases are suggestive of a possible association between this hereditary anaemia and specific skeletal abnormalities of the distal extremities.
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Citations

Brichard, B., Vermylen, C., Scheiff, J.-M., Michaux, J.-L., Ninane, J., & Cornu, G. (1994). Two cases of congenital dyserythropoietic anaemia type I associated with unusual skeletal abnormalities of the limbs. British Journal of Haematology, 86(1), 201-202. https://doi.org/10.1111/j.1365-2141.1994.tb03278.x (Original work published 1994)