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KMID : 0375219920070010123
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Journal of Il Sin Christian Hospital
1992 Volume.7 No. 1 p.123 ~ p.130
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Two Cases of Osteogenesis Imperfecta
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Abstract
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Osteogenesis imperfecta is a heterogenous group of disorders that are characterized by connective tissue defects resulting in bone fragility, blue sclera and deafness.
We report two cases of osteogenesis imperfecta that occur in one family.
First cases is newborn male patients with mild moaning, chest film shows multiple fractures with callus formation at ribs, fresh fracture at clavicle, infantogram shows fibula fracture, greenstick fracture of ulna and thin bone cortex of skull
with
multiple wormian bone.
Second case is his sister, 7 years old, who has also multiple variable stages of fratures with severe deformities of spines and both extremities.
All of patients have severe osteoporosis in bone densitometry without blue sclera.
We reviewed literature on radiologica features and discussed on recently proposed classification of osteogenesis imperfecta.
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