A Case of Osteogenesis Imperfecta. |
Kwang Wook An, Chull Zoo Jung, Hyo Seop Joo, Seung Woo Moon |
Department of Pediatrics, Dong Kang Hospital, Woolsan Korea |
선천성 골형성 부전증 1 례 |
안광욱, 정철주, 주효섭, 문승우 |
울산동강병원 소아과 |
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Abstract |
Osteogenesis imperfecta is an inherited disorders of connective tissue that affects the skeleton, ligament,
sclera, and dentin. Characterized clinical manifestation are multiplefracture, blue sclera, deafness,
joint laxity, thin skin, and odontogenesis imperfecta. We experienced acase of osteogenesis imperfecta
in a one day old male newborn who chiefly complain respiratory distress, triangular shaped head and fracture and deformity of lower extremity. With typical clinical manifestation and radiologic finding of osteoporosis, multiple fracture & deformity, he had diagnosed as osteogenesis imperfecta congenita.
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Key Words:
Osteogenesis imperfecta (congenita, type 표, thick type). |
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