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首页> 外文期刊>American journal of medical genetics, Part A >Case of genochondromatosis type I in an 8-year-old boy
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Case of genochondromatosis type I in an 8-year-old boy

机译:一名8岁男孩的I型线粒体病病例

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摘要

Enchondromatosis is defined as the presence of multiple enchon-dromas, which are common benign tumors of hyaline cartilage. It usually develops in the medullary canal of long tubular bone and metaphyses of flat bone and has an asymmetric distribution [Le Merreretal., 1991;GabosandBowen, 1998; Silve and Juppner, 2006; Isidor et al., 2007]. Genochondromatosis is a subtype of enchondromatosis and is characterized by autosomal dominant inheritance, symmetric lesions, and normal stature without skeletal deformities [Pansuriya et al., 2010]. Only a few reports of genochondromatosis are available worldwide. The following is a report of genochondromatosis in an 8-year-old boy who visited our medical center for a broken thigh, which turned out to be a pathologic fracture.
机译:内生软骨瘤定义为存在多个内脏软骨,它们是透明软骨常见的良性肿瘤。它通常在长管状骨的髓管和扁平骨的干phy端发育,并具有不对称的分布[Le Merreretal。,1991; GabosandBowen,1998; Hermany,1991; J.Med.Chem.Soc。,,,,,,,,,,]。 Silve和Juppner,2006年; Isidor等,2007]。软骨病是软骨病的一种亚型,其特征是常染色体显性遗传,对称性病变和没有骨骼畸形的正常身材[Pansuriya et al。,2010]。全世界仅有少数关于软骨软骨病的报道。以下是一个8岁男孩的软骨炎的报告,该男孩因大腿折断来到我们的医疗中心,结果证明是病理性骨折。

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