hyperostosis corticalis generalisata

van Buchem disease

An autosomal recessive condition (OMIM:239100) characterised by hyperostosis of the skull, mandible, clavicles, ribs and diaphyseal cortices of long bones, as well as a massively enlarged jaw and thickened skull, leading to facial nerve palsy, hearing loss and optic atrophy.
Molecular pathology
van Buchem disease is caused by a genomic deletion of a long-range bone enhancer on chromosome 17q12-q21, which misregulates sclerostin.

hyperostosis corticalis generalisata

Generalized cortical hyperostosis, see there, aka Van Buchem's disease.

单词	hyperostosis corticalis generalisata
释义	DictionarySeehyperostosis hyperostosis corticalis generalisata van Buchem disease An autosomal recessive condition (OMIM:239100) characterised by hyperostosis of the skull, mandible, clavicles, ribs and diaphyseal cortices of long bones, as well as a massively enlarged jaw and thickened skull, leading to facial nerve palsy, hearing loss and optic atrophy. Molecular pathology van Buchem disease is caused by a genomic deletion of a long-range bone enhancer on chromosome 17q12-q21, which misregulates sclerostin. hyperostosis corticalis generalisata Generalized cortical hyperostosis, see there, aka Van Buchem's disease.
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