Firlit G S, Bunch W H
Clin Orthop Relat Res. 1978 Sep(135):39-41.
The is a report of a 5-year-old girl with osteogenesis imperfecta, an uncommon abnormality considered to encompass several distinct disorders and biochemically classified as a connective tissue disease. Affected individuals, in the more severe form of the disease, often die in utero or shortly thereafter secondary to birth trauma. The patient was one of dizygotic twins discordant for osteogenesis imperfecta tarda inherited as an autosomal dominant trait.
这是一篇关于一名5岁患有成骨不全症女孩的报告。成骨不全症是一种罕见的异常情况，被认为包含几种不同的病症，在生化方面被归类为结缔组织病。在该疾病较为严重的形式中，受影响的个体通常会在子宫内或出生后不久因出生创伤而死亡。该患者是一对异卵双胞胎之一，患有迟发性成骨不全症，该病以常染色体显性性状遗传，双胞胎中另一个未患病。
