BRUCK-SYNDROME - A RARE COMBINATION OF BONE FRAGILITY AND MULTIPLE CONGENITAL JOINT CONTRACTURES

Bruck syndrome manifests with combined features of arthrogryposis and osteogenesis imperfecta. It is a distinct autosomal recessive disorder with normal collagen I. The main features are osteoporosis, bowing of the long bones, scoliosis due to vertebral deformities, and congenita l joint contractures. The presence of arthrogryposis differentiates th is syndrome from ''classical'' osteogenesis imperfecta. A family with three affected children is presented with a review of the literature.