Ghosal hematodiaphyseal dysplasia: A rare cause of a myelophthisic anemia

Parisa Mazaheri, Girish Nadkarni, Elizabeth Lowe, Patrick Hines, Melena Vuica, Matthew Griffin, Linda M.S. Resar

Research output: Contribution to journalArticlepeer-review

Abstract

Ghosal hematodiaphyseal dysplasia syndrome (GHDD) is a rare clinical syndrome characterized by increased bone density and a severe, myelophthisic anemia. Few cases have been reported worldwide and there are no detailed descriptions of the associated hematologic abnormalities and long-term clinical outcomes after treatment. Here, we report two siblings with GHDD who were successfully treated with chronic, low dose, corticosteroid therapy. Although GHDD is uncommon, these cases illustrate the need to consider GHDD in patients with anemia and bone dysplasia and the use of chronic, low-dose steroid therapy.

Original languageEnglish (US)
Pages (from-to)1187-1190
Number of pages4
JournalPediatric Blood and Cancer
Volume55
Issue number6
DOIs
StatePublished - Dec 2010

Keywords

  • Anemia
  • Diaphyseal dysplasia
  • Ghosal syndrome

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Hematology
  • Oncology

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