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 congenital joint contractures. The presence of arthrogryposis differentiates this syndrome from "classical" osteogenesis imperfecta. A family with three affected children is presented with a review of the literature.
|Number of pages||4|
|Journal||Journal of pediatric orthopedics. Part B|
|Publication status||Published - Jan 1998|