Journal of Korean Endocrine Society 2002;17(1):117-123.
Published online February 1, 2002.
Histomorphometry of Osteogenesis Imperfecta I.
Seong Bin Hong, Suk Myun Ko, Yong Koo Park, Young Joo Park, Yoon Juo Oh, Young Wan Kim, Sung Ki Kim, Moon Suk Nam, Yong Seong Kim
1Department of Internal Medicine, Inha University College of Medicine, Inchon, Korea.
2Department of Orthopedic surgery, Inha University College of Medicine, Inchon, Korea.
3Department of surgical pathology, Kyunghee University School of Medicine, Seoul, Korea.
Osteoporosis imperfecta (OI) is a genetic disorder characterized by fragility of bone, deafness, blue sclerae; and laxity of joints. Four types of OI are distinguished by clinical findings. Although mutations affecting collagen I are responsible for the disease in the most patients, the mechanism by which the genetic defects cause abnormal bone development has not been well established. Therefore we evaluated static and dynamic bone histomorphometry of type I OI in the case study of a 15 year old boy with OI who had blue sclerae, a history of frequent fracture and a familial history of blue sclerae. Biopsy of the ilium showed loss of connection between the cortical bone and trabecular bones. The Harversian system in the cortical bone was poorly developed. In the trabecular bones, the lamellar pattern was poorly developed. Mineral apposition rate of the cortical bone was 1.0 m/day and of the trabecular bone was 0.79 m/day. Thus OI might be regard as a disease whereby abnormal collagen synthesis interferes with bone strength by multiple mechanisms.
Key Words: Osteogenesis Imperfecta, Histomorphometry

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