Levin L S, Wright J M, Byrd D L, Greenway G, Dorst J P, Irani R N, Pyeritz R E, Young R J, Laspia C L
Am J Med Genet. 1985 Jun;21(2):257-69. doi: 10.1002/ajmg.1320210207.
Thirteen individuals with osteogenesis imperfecta (OI) from three families were evaluated. All examined persons with OI had multilocular radiolucent, radiopaque, or radiolucent-radiopaque lesions of the maxilla and mandible. In most patients, the lesions involved the tooth bearing areas, but in two, the rami also were involved. Teeth were normal. Radiologic findings in the extragnathic skeleton included marked coarseness of trabeculae and diffuse osteopenia. It is proposed that these patients represent yet another dominantly inherited OI syndrome.
对来自三个家族的13名成骨不全（OI）患者进行了评估。所有接受检查的OI患者上颌骨和下颌骨均有多房性透射性、阻射性或透射 - 阻射性病变。大多数患者的病变累及牙列区域，但有两名患者的下颌支也受累。牙齿正常。颌外骨骼的放射学表现包括骨小梁明显增粗和弥漫性骨质减少。有人提出，这些患者代表了另一种常染色体显性遗传的OI综合征。
