Journal of the Korean Ophthalmological Society 1998;39(1):204-208.
Published online January 1, 1998.
The Blue Sclera in Osteogenesis Imperfecta.
Seong Eon Kim, Key Hwan Lim, Chung Sook Ahn
Department of Ophthalmology, College of Medicine, Ewha Womans University, Seoul, Korea.
청색공막을 동반한 골형성 부전증 1례
김성언(Seong Eon Kim),임기환(Key Hwan Lim),안정숙(Chung Sook Ahn)
Abstract
Osteogenesis imperfecta is relatively rare hereditary disease. It is characterized by frequent multiple bone fractures, spine scoliosis due to fragility of bone and is often associated with blue sclera, deafness and dentinogenesis imperfecta. Three-year-old male patient showed left tibia and fibula fractures and spine scoliosis with mild cortical bone thinning of tibia and fibula in radiologic study and blue sclera with family history of autosomal dominant inheritance pattern on ocular examination. He suffered 4 times lower leg fractures during the last 19 months. But, other features associated with osteogenesis imperfecta such as deafness or dentinogenesis imperfecta were not observed. The authors diagnosed osteogenesis imperfecta clinically and report this case with review of available literature.
Key Words: Osteogenesis imperfecta;Blue sclera
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