Diaphyseal dysplasia Ghosal hemato type

Ghosal hematodiaphyseal dysplasia, is a rare, autosomal recessive disease, characterized by diaphyseal dysplasia and metaphyseal dysplasia of the long bones and refractory anemia.It is associated with a deficiency of Thromboxane-A synthase, which produces Thromboxane A2. Although this disease is like Camurati–Engelmann disease where there is also diaphyseal dysplasia, there are, however, reasons to differentiate between the two diseases. [Source: Wikipedia ]

Synonyms
Ghosal hematodiaphyseal dysplasia
Hematodyaphyseal dysplasia Ghosal type
Is A
Diaphyseal dysplasia
May Cause
Anemia
Broad tubular bones
Osteosclerosis
Ghosal hematodiaphyseal dysplasia
Hematodyaphyseal dysplasia Ghosal type