Specific clinical and imaging features of osteogenesis imperfecta V

Objective: To evaluate specific clinical and imaging features of osteogenesis imperfecta V and to improve diagnostic accuracy of this disease. Methods Data of 15 patients with osteogenesis imperfecta type V were retrospectively analyzed for their clinical and imaging features. There were 10 males and 5 females, aged from 1 year and 30 years old (median age, 12.5 years ). All 15 patients had plain X-ray, and 4 of 15 had CT. All data were analyzed by 3 experienced deputy chief doctors in OI according to OI V standard. Results: X-ray: calcification of the interosseous membrane between radius-ulna was detected in all patients and calcification of the interosseous membrane between tibia-fibula was detected in 2 of 15 patients. Dislocation of the radial head was seen in 13 of 15 patients, bilateral in 9 and utilateral in 4. All patients showed restriction in the pronation and supination of the forearm and restriction in the flexion and extension of the elbow joint. Patients with dislocation of radial head were associated with large coronoid process and olecranon of the ulna. Hyperplastic callus of the extremities were detected in 7 of 15 patients (7 at femur, 3 at humerus, 1 at tibia.In early stage, hyperplastic callus showed thin cortice, and clear boundaries with the diaphysis showing and low density, irregular, mesh-like lamellation inside. In the later stage, there were dense calcification inside hyperplastic callus, and no difference in density with the diaphysis. Diaphysis surrounded by hyperplastic callus had clear boundaries with the hyperplastic callus. No cortical destruction was detected. CT: there were sparse needle-dot calcification inside hyperplastic callus, with the patterns of granular, ring-and-arch, irregular streaky mineralization. The cross section of proximal femoral shaft showed irregular shape , flat square shape and tiny medullary cavity, with no calcification on the edge of hyperplastic callus. CT value: -91 HU inside hyperplastic callus; 283 HU in femoral shaft. Conclusions: Interosseous membrane between radius-ulna or tibia-fibula, hyperplastic callus, dislocation of the radial head are specific features in osteogenesis imperfecta V. X-ray can make a definitive diagnosis of osteogenesis imperfecta V. CT scan is helpful in the differential diagnosis of osteogenesis imperfecta V from osteosarcoma. (authors)