The radiology of sclerosteosis

Abstract

Sclerosteosis is an unusual disorder in which increased skeletal density is associated with abnormalities of bony modelling. It is virtually confined to the Afrikaner population of South Africa. The condition is progressive and complications arise due to cranial nerve involvement. Death from raised intracranial pressure occurs in early adulthood. To define the range and extent of the bony abnormalities, the radiographic features of 18 affected individuals were analyzed. The recognition of characteristic changes permits diagnostic precision.