COLLAGEN, GENES AND THE SKELETAL DYSPLASIAS ON THE EDGE OF A NEW ERA - A REVIEW AND UPDATE

被引：20

作者：

LACHMAN, RS

TILLER, GE

GRAHAM, JM

RIMOIN, DL

机构：

[1] Department of Radiology, UCLA School of Medicine, Harbor/UCLA Medical Center, Torrance, CA

[2] Division of Medical Genetics, UCLA School of Medicine, International Skeletal Dysplasia Registry, LosAngeles, CA

来源：

EUROPEAN JOURNAL OF RADIOLOGY | 1992年 / 14卷 / 01期

关键词：

SKELETAL DYSPLASIA; OSTEOGENESIS IMPERFECTA; ACHONDROGENESIS; HYPOCHONDROGENESIS; SPONDYLOEPIPHYSEAL DYSPLASIA; COLLAGEN ABNORMALITY;

D O I：

10.1016/0720-048X(92)90052-B

中图分类号：

R8 [特种医学]; R445 [影像诊断学];

学科分类号：

1002 ; 100207 ; 1009 ;

摘要：

This article reviews the newly described biochemical (type I and II collagen) abnormalities and specific gene defects in the skeletal dysplasias. The model of the collagen molecule is described and how collagen is processed from procollagen, where and how abnormalities occur, and the types of abnormalities produced (quantitative and qualitative). The only known type I collagen defects producing skeletal dysplasias - osteogenesis imperfecta, as well as the 'family' of established type II collagen disorders - achondrogenesis type II, hypochondrogenesis and spondyloepiphyseal dysplasia congenita are discussed. Finally, using case presentations, the practical approach to these disorders is shown. The importance of these investigations and the subsequent reevaluation of the clinical and radiological findings of specifically delineated skeletal dysplasias are discussed.

引用

页码：1 / 10

页数：10

共 19 条

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