Clinical correlation to genetic variations of hereditary multiple exostosis

Hereditary multiple exostosis (HME) is an autosomal dominant disorder leadi ng to polyostotic periphyseal osteochondroma formation. These tumorous lesi ons can cause growth disturbances, painful local symptoms, restriction of j oint motion, and neurologic compromise. Malignant transformation has been n oted. The reports of the incidence of these complications vary widely in th e literature. Recently, genetic lineage mapping disclosed three locations f or HME with loci on chromosomes 8, 11, and 19. It is possible that these th ree genotypes may result in different phenotypic expression of HME and thus explain the variable manifestations of the disease. This study attempts to record the clinical findings of HME patients who have undergone genetic ma pping to determine whether varying clinical patterns may exist for each gen otype of HME.