일가족에 발생한 골화석증

Osteopetrosis (also called Albers-Schoberg's disease, Marble bones and chalk bones) is a rare hone dysplasia in which, on the basis of a failure of osteoclastic and chondroclastic resorption, the bone become exceedingly dense. Two clinically distinct forms are now recognized and have different...

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Published inThe Korean journal of medicine Vol. 47; no. 6; pp. 840 - 844
Main Authors 최웅송, Oung Seung Choi, 박정영, Jong Young Park, 이배진, Bai Jin Lee, 이정호, Jung Ho Lee, 김형기, Hyung Gi Kim, 최낙현, Nak Hyun Choi, 박봉수, Bong Sou Park, 김시찬, Si Chan Kim, 변동일, Dong Il Byun, 김형길, Hyung Gil Kim, 정동균, Dong Gyoon Jung
Format Journal Article
LanguageKorean
Published 대한내과학회 01.12.1994
Subjects
Autosomal dominant
Osteropetrosis
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ISSN1738-9364

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Summary:Osteopetrosis (also called Albers-Schoberg's disease, Marble bones and chalk bones) is a rare hone dysplasia in which, on the basis of a failure of osteoclastic and chondroclastic resorption, the bone become exceedingly dense. Two clinically distinct forms are now recognized and have different patterns of inheritance. The milder form is transmitted as an autosomal dominant trait and the more severe form is transmitted as an autosomal recessive trait. We have experienced a familial osteopertrosis, mother and three siblinges out of six, which was thought to be a autosomal dominant inheritance. We report a case of milder form of osteopetrosis with a review of literature.
Bibliography:The Korean Association Of Internal Medicine
ISSN:1738-9364