Calkin S
Nurs Times. 1994;90(25):34-5.
Osteogenesis imperfecta (OI), also known as fragilitas ossium or brittle bone disease, is a rare, inherited disease of connective tissue resulting in errors in collagen I synthesis. The incidence of the condition has been quoted as being between 1:20,000 to 1:60,000 live births, affecting females more than males. It has been classified into four types. This case study concerns a pregnant woman suffering from the most common form of OI, type I, which affects 80% of sufferers and occurs as an autosomal dominant inheritance or as a new mutation.
成骨不全症(OI),也称为骨质脆弱症或脆骨病,是一种罕见的遗传性结缔组织疾病,会导致I型胶原蛋白合成出现错误。该病的发病率据报道在每20000至60000例活产中有1例,女性受影响的人数多于男性。它已被分为四种类型。本病例研究涉及一名患有最常见的OI类型(I型)的孕妇,I型影响80%的患者,以常染色体显性遗传或新的突变形式出现。