Autosomal dominant osteopetrosis: bone metabolism and epidemiological, clinical, and hormonal aspects.

Abstract

AN ADULT with diffuse radiological osteosclerosis, enlarged corticalis, narrowed marrow space, and associated multiple fractures was described as a new clinical entity for the first time by Albers-Schonberg in 1904 (1). In the following decades patients with varying degrees of osteosclerosis and symptoms were designated Albers-Schonbergs disease or marble bone disease. Later the term osteopetrosis was introduced (2). Many patients with osteosclerosis, presumably secondary to generalized conditions, were initially recorded as having osteopetrosis (2). The reported cases of what might have been primarily osteopetrosis were very serious, were seen in childhood, and were often associated with consanguinity, indicating a recessive trait. Later, when radiological examinations were more common, patients with a more benign history were discovered with increasing frequency; these patients revealed a family history in accordance with an autosomal dominantly inherited condition. Johnston et al. (3) emphasized a true...