Osteogenesis imperfecta with unusual skeletal lesions: report of three families.

Osteogenesis imperfecta with unusual skeletal lesions: report of three families.
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具有异常骨骼病变的成骨不全症:三个家庭的报告。

DOI:
10.1002/ajmg.1320210207
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发表时间:
1985
期刊:
American journal of medical genetics
影响因子:
--
通讯作者:
Laspia,CL
Laspia,CL
中科院分区:
--
文献类型:
--
作者:
Levin,LS;Wright,JM;Byrd,DL;Greenway,G;Dorst,JP;Irani,RN;Pyeritz,RE;Young,RJ;Laspia,CL

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对来自3个家庭的13例成骨不全(OI)患者进行了评估。所有接受检查的OI患者都有上颌骨和下颌骨的多房性透射线、不透射线或透射线-透射线病变。在大多数患者中,病变累及牙齿承重区,但在2例中,也有升支受累。牙齿是正常的。颌外骨骼的放射学表现包括明显的骨小梁粗糙和弥漫性骨量减少。据认为,这些患者代表了另一种显性遗传性OI综合征。
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.
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