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先天性成骨不全症(OI)是一种全身性骨及结缔组织病,可能由于Ⅰ型胶元的异常合成所引起。一般本病又分为:(1)迟发型 OI:属常染色体显性遗传;(2)先天型 OI:属自发性突变或少数属常染色体隐性遗传。大多数病例的诊断是基于自发骨折及特征性的外貌如“三角脸”、
Congenital osteogenesis imperfecta (OI) is a systemic bone and connective tissue disease that may be caused by the abnormal synthesis of type I collagen. The general disease is divided into: (1) delayed type OI: autosomal dominant; (2) congenital OI: a spontaneous mutation or a few are autosomal recessive. The diagnosis of most cases is based on spontaneous fractures and characteristic appearances such as “triangular face”