Heterogeneity of the erythropoietic defect in two cases of aase-smith syndrome

Michele D'avanzo, Vito Pistoia, Raffaele Santinelli, Carlo Tolone, Roberto Toraldo, Anna Corcione, Cianfranco Canino, Ferdinando Lafusco

Research output: Contribution to journalArticlepeer-review


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.

Original languageEnglish
Pages (from-to)189-195
Number of pages7
JournalPediatric Hematology and Oncology
Issue number2
Publication statusPublished - 1994


  • Aase-Smith syndrome
  • Erythroid colony growth

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Hematology
  • Oncology
  • Cancer Research
  • Management of Technology and Innovation


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