The craniotubular bone modeling disorders: a neurosurgical introduction to rare skeletal dysplasias with cranial nerve compression.

The craniotubular bone modeling disorders are a group of skeletal dysplasias which involve predominantly the skull and long bones. The cranial involvement includes both external facial deformities and internal bony overgrowth about the cranial foramina and fissures. The latter commonly leads to cranial nerve compression, particularly of the optic nerve. Craniotomy and cranial nerve decompression can give substantial benefit to selected patients with these diseases but the severe bony abnormalities create technical problems which prevent surgery in some extreme cases. These disorders are genetically determined but the basic pathophysiologic mechanism has been delineated for only a few types and non-surgical treatment remains supportive.