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[成骨不全的遗传异质性。6例研究]

[Genetic heterogeneity of osteogenesis imperfecta. Study of 6 cases].

作者信息

Olivares J L, Hernández M C, Bueno M

出版信息

An Esp Pediatr. 1986 Sep;25(3):154-60.

PMID:3789548
Abstract

Osteogenesis imperfecta one of the most common disorders of connective tissue, has been known for centuries. The most characteristic alterations which define it are: osteoporosis, osseous fragility with multiple fractures, blue sclerae, deafness and imperfect dentinogenesis. Important advances in the biochemical, anatomopathological, genetic, therapeutic and prophylactic fields have resulted in a great present-day interest in this disease. In this work we report six cases of osteogenesis imperfecta according to the current classification and we review the most outstanding aspects.

摘要

成骨不全是最常见的结缔组织疾病之一,已有数百年的认识历史。定义该病的最典型改变为:骨质疏松、伴有多发骨折的骨脆性、蓝色巩膜、耳聋及牙本质生成不全。生化、解剖病理、遗传、治疗及预防领域的重要进展使得当今对该疾病产生了极大兴趣。在本研究中,我们根据当前分类报告了6例成骨不全病例,并对最突出的方面进行了综述。

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