Clinical Characteristics of 10 Cases of Korean Osteogenesis Imperfecta / 대한내분비학회지

ABSTRACT

Osteogenesis Imperfecta (OI) is a relatively rare hereditary disease, which is characterized by multiple bone fractures and spine scoliosis, due to the fragility of bone, and is often associated with blue sclerae, deafness and dentinogenesis imperfecta. Four types of OI can be distinguished, according to the clinical findings. Although mutations affecting type I collagen are responsible for the disease in most patients, the mechanism by which the genetic defects cause abnormal bone development remains to be fully understood. Here, the clinical characteristics of 10 OI patient cases are reported, with a review of the literature. All the cases, including 4 type I, 4 type III and 2 type IV, inherited OI as an autosomal dominant trait. All the subjects had multiple old fractures and decreased bone densities. In this study, the biochemical marker of bone formation, serum alkaline phosphatase, was found to be increased only in the pediatric OI patients, while the biochemical marker of bone resorption, urinary deoxypyridinoline, was increased in all cases. The mobility score was found to correlate with the severity of the type on diagnosis.