제 II형 골형성 부전증(2례 부검보고)

Abstract

Osteogenesis imperfecta is one of common hereditary anomalies, but its spectrum appears quite broad. There are many clinical and pathological features which suggest heterogeneity of this disease. We report two cases of osteogenesis imperfecta that we thought best fit for type II. Both cases were born after gestational periods of 30 and 40 weeks, and died immediately after birth. Both clinical and radiological findings were compatible with those of osteogenesis imperfecta in both cases. Major histologic findings were alteration of both endochondral and intramembranous ossification. And interestingly osteoclasts were abundant in the surface 01 lamellar bone and medul1ary spaces as wel1 in both cases. We reviewed the literatures on histologic features and discussed on recently proposed classification of osteogenesis imperfecta.