|
KMID : 0882419940470060840
|
|
Korean Journal of Medicine
1994 Volume.47 No. 6 p.840 ~ p.844
|
|
|
A Familial Osteopetrosis
|
|
최웅승
박정영/이배진/이정호/김형기/최낙현/박봉수/김시찬/변동일
|
|
|
Abstract
|
|
|
Osteopetrosis (also called Albers-Schoberg's disease, Marble bones and chalk bones) is a rare bone 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 osteopertrosis with a review of literature.
|
|
|
KEYWORD
|
|
|
|
|
|
FullTexts / Linksout information
|
|
|
|
|
Listed journal information
|
|
  
|