1.
Pediatr Hematol Oncol
; 20(5): 409-15, 2003.
Article
in English
| MEDLINE
| ID: mdl-12775540
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.