Browsing Department of Pediatrics by Subject "Dyskeratosis congenita"

Browsing Department of Pediatrics by Subject "Dyskeratosis congenita"

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  • A case of Revesz syndrome 
    Kankananarachchi, C. I.; Wickramasinghe, N. D.; Vithana, S. R.; Munasinghe, T. M.; Amarasena, S. (Faculty of Medicine, University of Ruhuna, Galle, Sri Lanka, 2018-06-05)
    Classical features of Revesz syndrome (RS) include skin pigmentation, nail dystrophy, oral leukoplakia, cerebellar hypoplasia, growth retardation and delayed psychomotor development1. We report a child with RS with ...
  • A female with dyskeratosis congenita 
    Amarasena, S.; Hapuarachchi, G. K.; De Silva, M. H. A. D. (Faculty of Medicine, University of Ruhuna, Galle, Sri Lanka, 2005-09)
    Dyskeratosis congenita is an inherited bone marrow failure syndrome, with multisystem involvement. Incidence is approximately 1 case per million population. 225 individuals have been reported in the literature1.

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