Iordănescu C, Dogan D, Nicolae S, Burnei D, Cioablă D
Clinica Oftalmologică Constanţa.
Oftalmologia. 1995 Jul-Sep;39(3):235-8.
The observation of a 19-year-old patient with blue sclera, hypoacusis and osteofragility (with 13 previous fractures) is presented. In the same family there are other members belonging three generation, with manifestations specific to Lobstein osteopsathyrosis. In the case presented, the heredity was of dominant autosomal type with variable expressivity.
报告了一名19岁患者,有蓝色巩膜、听力减退和骨质脆弱(既往有13次骨折)。在同一家庭的三代人中还有其他成员,有洛布斯坦骨脆症的特异性表现。在该病例中,遗传方式为常染色体显性遗传,表现度可变。