endosteal hyperostosis Worth type; autosomal dominant osteosclerosis (WENHY)
Jump to navigation
Jump to search
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:
- early thickening of the endosteum of long bones, the skull & of the mandible
- with advancing age, the trabeculae of the metaphysis become thickened