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

Br J Haematol. 1994 Jan;86(1):201-2. doi: 10.1111/j.1365-2141.1994.tb03278.x.

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.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple*
  • Adult
  • Anemia, Dyserythropoietic, Congenital / complications*
  • Female
  • Fingers / abnormalities*
  • Humans
  • Syndactyly / complications*
  • Toes / abnormalities*