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.
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Authors | H Espérou-Bourdeau, T Leblanc, G Schaison, E Gluckman |
Journal | Nouvelle revue francaise d'hematologie
(Nouv Rev Fr Hematol (1978))
Vol. 35
Issue 1
Pg. 99-100
(Feb 1993)
Germany |
PMID | 8511046
(Publication Type: Case Reports, Journal Article)
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Topics |
- Adolescent
- Adult
- Anemia, Aplastic
(genetics, surgery)
- Bone Marrow Transplantation
- Dwarfism
(genetics)
- Female
- Humans
- Male
- Phenotype
- Syndrome
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