Multiple Heriditary Exostoses in a Family for Three Generation of Indian Origin with Review of Literature

Kalyani R; Prabhakar K; Gopinath B; Sheik Naseer B; Krishnamurthy DS

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Multiple Heriditary Exostoses in a Family for Three Generation of Indian Origin with Review of Literature

机译：三代印度血统的家庭中的多个遗传性外生皮，文献综述

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Multiple hereditary exostoses (MHE) are an autosomal dominant disorder, consisting of multiple cartilage capped bone tumour arising from the metaphysis of long tubular bones. Mutations are seen in Exostosin-1 and Exostosin-2 genes. We present a family of MHE for three generations. The index case was a 10-year-old male presented with multiple exostoses in hand, forearm, leg, right knee and chest. Family history revealed similar complaints in younger brother, father, paternal uncle, paternal aunt & her daughter and grandfather.

机译：多发性遗传性外生糖（MHE）是一种常染色体显性遗传疾病，由长管状骨的干arising端所引起的多发软骨覆盖的骨肿瘤组成。在Exostosin-1和Exostosin-2基因中发现突变。我们介绍了一个三代的MHE系列。索引病例是一名10岁的男性，手，前臂，腿，右膝盖和胸部出现多个外生糖。家族史显示，弟弟，父亲，父un，父阿姨，女儿和祖父也有类似的抱怨。

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《Journal of Clinical and Diagnostic Research》 |2014年第10期|共3页
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Kalyani R; Prabhakar K; Gopinath B; Sheik Naseer B; Krishnamurthy DS;
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中图分类临床医学;
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Multiple Heriditary Exostoses in a Family for Three Generation of Indian Origin with Review of Literature

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