Height and weight are often excessive, and deafness and facial palsy due to cranial nerve entrapment may be a presenting feature. Distortion of the facies, apparent by age 10, eventually becomes severe. In adults, elevated intracranial pressure may cause headache, and several sudden deaths have occurred from impaction of the brain stem in the foramen magnum. Predominant x-ray features are gross widening and sclerosis of the calvaria and mandible. The vertebral bodies are spared, although their pedicles are dense.
Pelvic bones are sclerotic but with normal contours.
Cortices of the long bones are sclerosed and hyperostotic, and their shafts undermodeled. Surgery to relieve intracranial pressure may be helpful. These symptoms usually resolve by age 30. Cranial nerve compression and raised intracranial pressure are occasional complications. Some patients are severely handicapped, whereas others are virtually asymptomatic.