Autosomal dominant osteopetrosis: report of a Norwegian family with radiographic or anamnestic findings differing from the generally accepted classification.

Abstract

Autosomal dominant osteopetrosis is currently divided into two, possibly three subgroups. The present study of a Norwegian family, however, suggests that such a grouping is not generally valid. A Norwegian family has been studied over four generations. Information about the two older generations was obtained mainly from hospital files and by interviewing members of the family. Radiographs were obtained from the two younger generations. Of a total 14 family members, nine patients consisting of six women and three men were studied. Within the same family, patients could be classified as belonging to different subgroups of osteopetrosis defined elsewhere, and at least three of them could be classified as belonging to more than one group. The present study suggests that the generally accepted classification of autosomal dominant osteopetrosis should be questioned.