7 – Osteogenesis Imperfecta

TLDR: This chapter presents the clinical aspects of osteogenesis imperfecta, probably the commonest of the inherited disorders of connective tissue that primarily affect the skeleton, which is about as rare as haemophilia and one-third as common as Duchenne muscular dystrophy.

Abstract: Publisher Summary This chapter presents the clinical aspects of osteogenesis imperfecta. Osteogenesis imperfecta, probably the commonest of the inherited disorders of connective tissue that primarily affect the skeleton, is about as rare as haemophilia and one-third as common as Duchenne muscular dystrophy. Osteogenesis imperfecta produces severe crippling and its cause is still unknown. The brittle bones that give osteogenesis imperfecta its name are the manifestation of a number of separate disorders. Patients with osteogenesis imperfecta are seen by a variety of specialists, particularly orthopedic surgeons, physicians and pediatricians, and their care tends to be fragmented. The main clinical features of osteogenesis imperfecta are fragile bones, dwarfism, blue sclerae, dentinogenesis imperfecta, and deafness. The established classifications of patients with osteogenesis imperfecta recognize a severe sporadic form with intra-uterine fractures and early death, osteogenesis imperfecta congenita, and milder often dominantly inherited forms in which fractures may be present at birth or within the first year of life, or after the first year.