Hyperostosis cranialis interna; a new syndrome with autosomal dominant inheritance

A family is described which currently comprises nine individuals, spanning three generations, who are affected with a bone disorder which is confined to the skull and is accompanied by impaired function of the cranial nerves. Radiological examination showed intracranial hyperostosis and osteosclerosis of the calvaria and the base of the skull, without involvement of the mandible or other skeletal bones. Invariably, the main presenting symptom was recurrent facial nerve paralysis from late childhood onwards, but concurrent and variable involvement of the olfactory, optic, vestibular and acoustic nerves was seen; this could be attributed to nerve compression by the bony encroachment into the cranial foramina. Morphological investigations revealed increased formation of bone tissue with a normal structure. The pedigree suggests an autosomal dominant mode of heredity. A review of the literature did not disclose any previous reports on this disorder.