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일가족에 발생한 osteopetrosis 증례보고 A Familial Osteopetrosis

대한정형외과학회지 1976년 11권 3호 p.483 ~ 488
이영헌, 노락균, 김재식, 이양현,
소속 상세정보
이영헌 (  ) 
경북대학교 의과대학 정형외과학교실

노락균 (  ) 
경북대학교 의과대학 정형외과학교실
김재식 (  ) 
경북대학교 의과대학 정형외과학교실
이양현 (  ) 
경북대학교 의과대학 정형외과학교실

Abstract


Osteopetrosis is a very rare bone dysplasia characterized by failure of resorption and persistence of calcified chondroid and primitive bone. We have experienced a familial osteopetrosis, father and three siblings out of seven, which was thought to be a autosonal dominant inheritance.
One of those family, 18 years old body; has been complained of low back pain without radiating pain to the lower extremities. No other clinical symptoms has manifested.
The other 3 patients has not been complained of any clinical symptom, but X-Ray examination of the entire skeletal survey of those members of the family have revealed the uniform opacity of long bones and flat bones. The normal architecture was altered, with no distinction between cortical and cancellous bone in all long bones.
Histologic picture have noted the irregular patches of immature chondro-osseous tissue embedded in the matrix of coarse fiber bone with a wide and prominent cement line.

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