Lachman R S, Tiller G E, Graham J M, Rimoin D L
Department of Radiology, UCLA School of Medicine, Torrance 90509.
Eur J Radiol. 1992 Jan-Feb;14(1):1-10. doi: 10.1016/0720-048x(92)90052-b.
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.
本文综述了骨骼发育不良中最新描述的生化异常（I型和II型胶原蛋白）及特定基因缺陷。文中描述了胶原蛋白分子模型，以及胶原蛋白如何从原胶原蛋白加工而来、异常发生的位置和方式，还有所产生异常的类型（数量和质量方面）。讨论了导致骨骼发育不良的仅有的已知I型胶原蛋白缺陷——成骨不全，以及已确定的II型胶原蛋白疾病“家族”——II型软骨发育不全、低软骨发育不全和先天性脊柱骨骺发育不良。最后，通过病例展示，说明了针对这些疾病的实际处理方法。讨论了这些检查的重要性以及随后对特定骨骼发育不良的临床和影像学检查结果进行重新评估的情况。
