Literature DB >> 20672367

Ghosal hematodiaphyseal dysplasia: a rare cause of a myelophthisic anemia.

Parisa Mazaheri1, Girish Nadkarni, Elizabeth Lowe, Patrick Hines, Melena Vuica, Matthew Griffin, Linda M S Resar.   

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.

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Year:  2010        PMID: 20672367     DOI: 10.1002/pbc.22662

Source DB:  PubMed          Journal:  Pediatr Blood Cancer        ISSN: 1545-5009            Impact factor:   3.167


  4 in total

1.  Ghosal hematodiaphyseal dysplasia with myelofibrosis.

Authors:  Kalpana Datta; Madan Karmakar; Michael Hira; Sanjay Halder; Koushik Pramanik; Goutam Banerjee
Journal:  Indian J Pediatr       Date:  2012-09-15       Impact factor: 1.967

Review 2.  Ghosal hematodiaphyseal dysplasia-a concise review including an illustrative patient.

Authors:  Richa Arora; Shagun Aggarwal; Swaroopa Deme
Journal:  Skeletal Radiol       Date:  2014-08-30       Impact factor: 2.199

3.  Novel compound heterozygous variants of TBXAS1 presenting with Ghosal hematodiaphyseal dysplasia treated with steroids.

Authors:  Sun Young Kim; Alexander Ing; Shunyou Gong; Kai Lee Yap; Rukhmi Bhat
Journal:  Mol Genet Genomic Med       Date:  2021-02-17       Impact factor: 2.183

4.  Ghosal Hematodiaphyseal Dysplasia: A Case Report.

Authors:  Marjan Shakiba; Shahin Shamsian; Hamid Malekzadeh; Mehrdad Yasaei
Journal:  Int J Hematol Oncol Stem Cell Res       Date:  2020-04-01
  4 in total

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