User menu

Accès à distance ? S'identifier sur le proxy UCLouvain

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

Primary tabs

Brichard, Bénédicte [UCL] Vermylen, Christiane [UCL] Scheiff, Jean-Marie [UCL] Michaux, Jean-Louis [UCL] Ninane, Jacques Cornu, Guy [UCL]

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.

Document type Article de périodique (Journal article) – Article de recherche
Access type Accès restreint
Publication date 1994
Journal information "British Journal of Haematology" - Vol. 86, no. 1, p. 201-202 (1994)
Peer reviewed yes
Publisher Wiley-Blackwell Publishing Ltd. (Chichester)
issn 0007-1048
e-issn 1365-2141
Publication status Publié
Affiliations UCL - MD/GYPE - Département de gynécologie, d'obstétrique et de pédiatrie
UCL - MD/MNOP - Département de morphologie normale et pathologique
UCL - (SLuc) Service d'hématologie et d'oncologie pédiatrique
UCL - (SLuc) Service de biologie hématologique
UCL - MD/MINT - Département de médecine interne
UCL - (SLuc) Service d'hématologie
MESH Subject Abnormalities, Multiple ; Adult ; Anemia, Dyserythropoietic, Congenital - complications ; Female ; Fingers - abnormalities ; Humans ; Syndactyly - complications ; Toes - abnormalities
Keywords Congenital dyserythropoietic anaemia ; Skeletal abnormalities ; Syndactyly
Links
  1. Breton-Gorius J., Nouvelle Revue Francaise d'Hematologie, 13, 23 (1973)
  2. Clauvel J.P., Nouvelle Revue Francaise d'Hematologie, 12, 653 (1972)
  3. Heimpel H., Blood, 37, 299 (1971)
  4. Heimpel H., Archiv fur Klinische Medizin, 215, 174 (1968)
  5. Lewis S.M., British Journal of Haematology, 23, 113 (1972)
Bibliographic reference Brichard, Bénédicte ; Vermylen, Christiane ; Scheiff, Jean-Marie ; Michaux, Jean-Louis ; Ninane, Jacques ; et. al. Two cases of congenital dyserythropoietic anaemia type I associated with unusual skeletal abnormalities of the limbs.. In: British Journal of Haematology, Vol. 86, no. 1, p. 201-202 (1994)
Permanent URL http://hdl.handle.net/2078.1/13488