1. Early Manifestation of Ghosal-Type Hemato-Diaphyseal Dysplasia.
- Author
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Alebouyeh, Mardawig, Vossough, Parvanch, and Tabarrok, Firouz
- Subjects
DYSPLASIA ,ANEMIA - Abstract
Ghosal-type hemato-diaphyseal dysplasia is a rare autosomal recessive disorder with distinctive diaphyseal and metaphyseal dysplasia of long bones and steroid-dependant anemia. The authors describe a 20-month-old girl who had had a severe transfusion-dependent anemia since late infancy and marked locomotion difficulties as a toddler. The diagnosis was established by X-ray bone survey. The anemia was treated with oral prednisolone. Since then, the patient has been doing well on steroid-maintenance therapy and has no more walking difficulties. The incidence of hemato-diaphyseal dysplasia in the Indian subcontinent and Middle East is notable. [ABSTRACT FROM AUTHOR]
- Published
- 2003
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