[Hereditary exostoses--presentation of a family case]

Abstract

In this article we present a Norwegian family with hereditary multiple exostoses and a review of relevant literature. 21 family members were examined; ten males and six females had multiple exostoses, the youngest from six months of age. The exostoses had led to compression of nerves, disturbance of bone growth with shortening and bowing of the forearm bones, and valgus deformity of the knee and ankle. Physical function and quality of life was generally well preserved. Contrary to most reports, nearly half of the patients had allegedly noticed growth or debut of exostoses in adulthood. Almost half of the patients had had the exostoses removed surgically twice, (median value). Malignant transformation of exostoses has not been observed in the family.