Imperfect Osteogenesis and Osteoporosis

Abstract

Olaus Jacob Eckman, in defending his doctoral thesis at the University of Uppsala on May 10, 1788, reported on the presence of a hereditary bone fragility, termed congenital osteomalacia, in four generations of a family living in Uppland. This was the first description of osteogenesis imperfecta, a heritable disorder of connective tissue that is characterized by blue sclerae, deafness, and fragile bones. Osteogenesis imperfecta has recently been the subject of intensive investigative efforts by both clinicians and molecular biologists. Recognized approximately once in 20,000 live births, it is an uncommon but by no means rare disorder. Both orthopedic surgeons and . . .