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Clinical Correlation to Genetic Variations of Hereditary Multiple Exostosis

Carroll, Kristen L. M.D.*†; Yandow, Suzanne M. M.D.; Ward, Ken M.D.; Carey, John C. M.D.

Journal of Pediatric Orthopaedics: November-December 1999 - Volume 19 - Issue 6 - p 785

Summary Hereditary multiple exostosis (HME) is an autosomal dominant disorder leading to polyostotic periphyseal osteochondroma formation. These tumorous lesions can cause growth disturbances, painful local symptoms, restriction of joint motion, and neurologic compromise. Malignant transformation has been noted. The reports of the incidence of these complications vary widely in the literature. Recently, genetic lineage mapping disclosed three locations for HME with loci on chromosomes 8, 11, and 19. It is possible that these three 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 mapping to determine whether varying clinical patterns may exist for each genotype of HME.

Study conducted at Shriners Hospital for Children and University of Utah Medical Center, Salt Lake City, Utah, U.S.A.

From *University of Utah School of Medicine, †Primary Children's Medical Center, and ‡Shriners Hospital for Children, Intermountain Unit, Salt Lake City, Utah, U.S.A.

Address correspondence and reprint requests to Dr. K. L. Carroll, P.O. Box 58246, Salt Lake City, UT 84158, U.S.A.

© 1999 Lippincott Williams & Wilkins, Inc.