AUTOSOMAL-DOMINANT OSTEOPETROSIS - REPORT OF A NORWEGIAN FAMILY WITH RADIOGRAPHIC OR ANAMNESTIC FINDINGS DIFFERING FROM THE GENERALLY ACCEPTED CLASSIFICATION

Objective. 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. Patie nts and methods. A Norwegian family has been studied over four generat ions. Information about the two older generations was obtained mainly from hospital files and by interviewing members of the family, Radiogr aphs were obtained from the two younger generations. Results and concl usion. Of a total 14 family members, nine patients consisting of six w omen and three men were studied. Within the same family, patients coul d be classified as belonging to different subgroups of osteopetrosis d efined elsewhere, and at least three of them could be classified as be longing to more than one group, The present study suggests that the ge nerally accepted classification of autosomal dominant osteopetrosis sh ould be questioned.