Ghosal hemato-diaphyseal dysplasia presenting as hypoplastic marrow: a case report

Ghosal hematodiaphyseal dysplasia is a rare autosomal recessive disorder characterized by metadiaphyseal dysplasia of long bones and defective hematopoesis due to fibrosis or sclerosis of bone marrow. The diagnosis of this syndrome with other sclerosing bone disorders is important as correct diagnosis helps in the treatment. We review the literature of this uncommon disorder and present a similar case for a 2 year old Indian female who presented with bicytopenia with no radiological abnormalities and was detected with the help of molecular diagnosis.