Dominant Endosteal Hyperostosis

Abstract

A family with dominant endosteal hyperostosis was described by the senior one of us (R.K.B.) in 19761. The propositus was a sixty-four-year-old man who had a cemented total hip replacement for the treatment of arthritis that had developed after a traumatic hip dislocation without a fracture. The finding of widespread increased density of the skeleton led to the evaluation of multiple family members. The pedigree demonstrated four generations with affected members. Eight members were examined clinically and radiographically. The affected individuals among the remainder were identified on the basis of family reports as the facial features of individuals with the disorder are quite distinctive. These features are not present until early adulthood so it was not possible to determine with certainty the affected members in the most recent generation. Evaluation of the first three generations indicated that eleven of the twenty-five offspring of affected parents were affected, and the pattern of inheritance included male-to-male transmission. This finding suggests autosomal dominant inheritance and is compatible with findings in previous reports on this condition. The patient willed his body for study following his death. Autosomal dominant endosteal hyperostosis was first described by Worth and Wollin, in 19662. The dysplasia is characterized by normal stature and intelligence. The age at which it can be diagnosed is not known, but facial changes and diaphyseal radiographic changes are present by adolescence. The facial changes include elongation of the mandible and an increased gonial angle. The forehead becomes flattened. There is a slowly enlarging osseous prominence of the hard palate (torus palatinus). The enlarging mandible and the development of a torus palatinus in the hard palate contribute to malocclusion and loss of teeth. The early radiographic changes include thickening of the endosteum of the long bones and of the skull. There is …