Aplastic anemia associated with "bird-headed" dwarfism (Seckel syndrome).
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.
Espérou-Bourdeau
H
H
Bone Marrow Transplant Unit, Hôpital Saint-Louis, Paris, France.
Leblanc
T
T
Schaison
G
G
Gluckman
E
E
D000293:Adolescent; D000328:Adult; D000741:Anemia, Aplastic / Q000235:genetics* / Q000601:surgery; D016026:Bone Marrow Transplantation; D004392:Dwarfism / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D010641:Phenotype; D013577:Syndrome