[Generalised cortical hyperostosis. One case (author's transl)].
Generalised cortical hyperostosis, a case of which is reported here, was distinguished from other condensing osteopathies by Van Buchem in 1955. It is characterised by a fairly special facial dysmorphia, associated with osteocondensation of the skull, spine, flat bones and the cortex of the long bones of the limbs. There is a form with recessive transmission, which is usually associated with cranial nerve involvement by compression, and alkaline hyperphosphatasemia, whilst in the form with dominant transmission these abnormalities are not usually present. By contrast, there is often a palatal torus. A case appeared to share features of both forms. The prognosis is usually favourable, in contrast to that of osteopetrosis, a condition with which it is often confused.
D000368:Aged; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D006958:Hyperostosis, Cortical, Congenital / Q000175:diagnosis / Q000235:genetics*; D010022:Osteopetrosis / Q000175:diagnosis
Hyperostose corticale généralisée. Une observation.