Ghosal haemato-diaphyseal dysplasia: a new disorder

We describe two siblings, products of a first cousin marriage, with diaphyseal dysplasia, severe anaemia, leukopenia, and thrombocytopenia. Radiologically, both had wide medullary cavities with discrete cortical hyperosthosis. Bone marrow was hypocellular. These, and six similar cases in the literature [6], suggest that they represent a form of diaphyseal dysplasia differing from Camurati-Engelmann disease by their radiological appearance, associated haematological abnormalities and autosomal recessive inheritance.