Osteogenesis Imperfecta

Osteogenesis imperfecta is an inherited disorder of connective tissue that is usually autosomal dominant (~85% of the time). Diagnosis is made with the presence if two or more of the following: osteoporosis, blue sclerae, dentinogenesis imperfecta, and premature otosclerosis. Patients also have ligamentous laxity, easy bruising, constipation, hyperplastic scars, premature vascular calcifications, and abnormal temperature regulation.

At least 7 types of osteogenesis imperfecta have been defined based on a clinical, radiographic, and genetic factors.

Radiographs reveal osteoporosis with multiple macro and micro fractures, the latter resulting in bowing deformities. The epiphyses are enlarged and may contain "popcorn" calcifications at the metaphyses (pieces of calcified cartilage representing physeal fragments). There is coxa vara and protrusio acetabulae. Chest radiographs reveal kyphoscoliosis and increased anteroposterior chest diameter.

References

• Roughley PJ, Rauch F, Glorieux FH. Osteogenesis imperfecta--clinical and molecular diversity. Eur Cell Mater. 2003 Jun 30;5:41-7.
• Goldman AB, Davidson D, Pavlov H, Bullough PG. "Popcorn" calcifications: a prognostic sign in osteogenesis imperfecta. Radiology. 1980 Aug;136(2):351-8.