[MIM 239 100]

(Late hyperphosphatasemia, widespread cortical hyperostosis)

Extremely rare: some cases in a region of the Netherlands. Autosomal recessive transmission of a deletion of the SOST gene (on 17q21.31) that causes an insufficient production of sclerostine, an inhibitor of osteosynthesis.

The following are observed after the first 10 years of life:

-        symmetrical enlargement of bones, mainly at the level of the jaws but also at the level of the skull, ribs, diaphysis of long bones and hands and feet bones.

-        a progressive loss of hearing and sight, a facial paralysis as well as neuropathic pain following progressive compression of the cranial nerves in their intraosseous pathway

Anesthetic implications:

very hard bone, visual and hearing disorders

References : 

Updated: September 2018