Here we report two children with Aase-Smith syndrome (triphalangeal thumbs and congenital red cell plasia). In vitro growth of erythroid colonies WLIS normal in the first patient and totally absent in the other. In both patients, treatment with glucocorticoidr induced remission of anemia. Our results suggest that the different growth patterns of erythroid colonies observed in the two patients could reflect the defect of erythroid differentiation occurring at discrete maturational levels.
- Aase-Smith syndrome
- Erythroid colony growth
ASJC Scopus subject areas
- Pediatrics, Perinatology, and Child Health
- Cancer Research
- Management of Technology and Innovation