| A Case of Osteogenesis Imperfecta Type II. |
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Chang Ick Lee, Young Ai Kim, Jung Joo Kim, Dong Hak Shin |
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Dept, of Pediatrics, Kei Myung University School of Medicine, Daegu, Korea |
| 선천성 골혈성 부전증 1례 |
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이창익, 김영애, 김정주, 신동학 |
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계명대학교 의과대학 부속 동산의료원 소아과학교실 |
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| Abstract |
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Osteogenesis, imperfecta is an inherited disorder of connective tissue characterized by multiple fractures, blue sclerae, progressive deafness, loose jointedness, and skin. We experienced a case of Type I osteogenesis imperfecta in a 2 months old male infant who visited our hospital with chief complaints of generalized growth retardation, blue sclera and frequent fractures and deformities of limbs. With typical manifestation and radiological findings of generalized growth retardation, osteoprosis, thinning of of cortex, multiple fractures with adequate callus formatiofns and deformities, he had diagnosed as a Type II osteogenesis imperfecta, but, no specific familial
history was noticed. |
| Key Words:
Osteogenesis imperfecta, Type II |
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