Osteogenesis imperfecta (OI) is a hereditary connective tissue disorder. The disease manifests on a spectrum with patients with more severe disease often suffering from fractures with minimal or no trauma. Very severe forms of disease can result in perinatal death. OI manifests most commonly as excess or atypical fractures, but other findings include short statures, hearing loss, easy bruising, and a scleral tint with the sclerae commonly appearing blue.
For a patient presenting to an ED with atypical fractures, child abuse should be considered. A full history and physical examination may lead to a suspected diagnosis of OI in a patient where one is not already established. There is no definitive laboratory tests for OI, but specific cDNA analysis can be done to detect type I collagen mutations and diagnose the disease.
Management and Disposition
The goals of management for OI patients is reducing the risk and rate of fractures, minimizing pain, and maximizing functional capabilities. Bisphosphates can be used as fracture prevention therapy. Physical therapy can also be instituted to enhance mobility and prevent fractures. Prognosis for OI patients depends on type, with shortened life spans related to forms with more severe thoracic vertebral deformities and immobility. Most individuals with OI lead long and productive lives.
OI patients with scleral tint may have sclerae that appear blue, gray, or purple. The coloration results from the projection of choroidal vein color through defective collagen layers.
Consider OI in patients with recurrent, atypical fractures with a thorough history and physical exam once nonaccidental trauma is excluded.
Blue Scleral Tint. Patient with osteogenesis imperfecta with typical blue scleral tint. (Photo contributor: Alan B. Storrow, MD.)