The orthopaedic manifestations of the Langer-Giedion syndrome

Abstract

Less than 50 cases of Langer-Giedion syndrome (also known as trichorhinophalangeal syndrome with exostoses) have been reported in the English literature since its first description in 1974. Affected individuals have been described as having a bulbous nose, micrognathia, short stature, multiple cartilaginous exostoses, and large, protruding ears. We recently treated a 5-year-old, mentally retarded boy with Langer-Giedion syndrome for symptomatic multiple exostoses involving his proximal tibia and distal femur. This paper will highlight the musculoskeletal abnormalities found in this child and compare them to those of 43 patients reported in the world literature. The comparison reveals a very distinctive pattern of exostosis, demonstrating a primary altered growth pattern in the lower extremities and deformity secondary to marked ligamentous laxity. Orthopaedic surgeons are frequently the first consultants to see these children for their obvious osteochondromata. They must consider the diagnosis of Langer-Giedion syndrome to facilitate the treatment of its other manifestations.