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Aplastic anemia associated with "bird-headed" dwarfism (Seckel syndrome).

Abstract
The Seckel syndrome or "bird-headed" dwarfism associates a severe short stature, mental deficiency and various malformations with characteristic facial appearance. It has been described in these children a moderate or severe marrow hypoplasia. The aplasia is unlikely constitutional and different from the Fanconi disease hypoplasia. We report here 2 cases of a such association. One of them had been cured by bone marrow transplantation.
AuthorsH Espérou-Bourdeau, T Leblanc, G Schaison, E Gluckman
JournalNouvelle revue francaise d'hematologie (Nouv Rev Fr Hematol (1978)) Vol. 35 Issue 1 Pg. 99-100 (Feb 1993) Germany
PMID8511046 (Publication Type: Case Reports, Journal Article)
Topics
  • Adolescent
  • Adult
  • Anemia, Aplastic (genetics, surgery)
  • Bone Marrow Transplantation
  • Dwarfism (genetics)
  • Female
  • Humans
  • Male
  • Phenotype
  • Syndrome

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