[Early Manifestation of Ghosal-Type Hemato-Diaphyseal]
Genetics in the 3rd Millennium. 2005; 3 (3): 580-583
em Inglês, Persa
| IMEMR
| ID: emr-172125
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
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Índice:
IMEMR (Mediterrâneo Oriental)
Idioma:
Inglês
/
Persa
Revista:
Genet. in the 3rd Millenium
Ano de publicação:
2005
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