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endosteal hyperostosis Worth type; autosomal dominant osteosclerosis (WENHY)
Pathology:
- sclerosing bone dysplasia
Genetics:
- autosomal dominant
- associated with defects in LRP5
Clinical manifestations:
- elongation of the mandible
- increased gonial angle, flattened forehead, & the presence of a slowly enlarging osseous prominence of the hard palate
- becomes clinically & radiologically evident by adolescence
- does not cause deformity except in the skull & mandible
- not associated with bone pain or fracture
- affected patients have normal height, proportion, intelligence & longevity
Laboratory:
- serum Ca+2, phosphorus & alkaline phosphatase levels are normal
Radiology:
- X-ray:
a) early thickening of the endosteum of long bones, the skull & of the mandible
b) with advancing age, the trabeculae of the metaphysis become thickened
General
exostosis; hyperostosis; osteoma; osteoncus
osteosclerosis
skeletal dysplasia
Database Correlations
OMIM 144750
References
Uniprot :accession O75197