hyperostosis corticalis generalisata (van Buchem disease)

Pathology

• osteosclerosis of the skull, mandible, clavicles, ribs, & diaphysis of the long bones
• optic atrophy & perceptive deafness from nerve pressure may occur

Clinical manifestations

• begins during puberty, or perhaps as early as 2 years of age

More general terms

• exostosis; hyperostosis; osteoma; osteoncus

More specific terms

• van Buchem disease type 2

Database

• OMIM: https://mirror.omim.org/entry/239100