Browsing Department of Pediatrics by Author "De Silva, M. H. A. D."

Browsing Department of Pediatrics by Author "De Silva, M. H. A. D."

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  • A 12 year old girl with acrodysostosis: a rare cause of short stature 
    Amarasena, S.; Samanlatha, M. G. K.; De Silva, M. H. A. D.; Kolombage, P. (Faculty of Medicine, University of Ruhuna, Galle, Sri Lanka, 2009-07)
    Acrodysostosis is a rare disease, first described in 1968, characterized by short hands and feet with peripheral dysostosis, small nose and mental retardation1. Although inherited as an autosomal dominant disorder2 most ...
  • 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.
  • A four and a half year old boy with myositis ossificans progressiva 
    Amarasena, S.; Samanlatha, M. G. K.; De Silva, M. H. A. D.; Kolombage, P. (Faculty of Medicine, University of Ruhuna, Galle, Sri Lanka, 2009-09)
    Myositis ossificans progressiva (MOP) (synonymous with fibrodysplasia ossificans progressiva) is an extremely rare disease inherited in an autosomal dominant manner with an estimated incidence of 0.1 per one million ...

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