Van Buchem disease is also known as hyperostosis corticalis generalisata. It is closely related to sclerosteosis. Disorders of sclerostin production, an anti-anabolic protein produced by the osteocyte, is responsible in both diseases.
Radiologically, both diseases demonstrate generalised thickening and sclerosis of both skull tables, mandible, ribs and diaphyses of long bones.
Cranial nerve palsies are common, as in our case of a patient with bilateral sensorineural deafness due to narrowing of the IAMs.
Syndactyly and increased height are seen in sclerosteosis and distinguish the diseases from each other. Both disorders are extremely rare.