Progressive osseous heteroplasia in the face of a child
Progressive osseous heteroplasia in the face of a child
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DOI：
10.1002/ajmg.a.10170
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发表时间：
2003-04-01
影响因子：
2
通讯作者：
Kaplan, FS
中科院分区：
文献类型：
--
作者：
Faust, RA;Shore, EM;Kaplan, FS
我们描述了一个罕见的情况下进行性骨性异质增生的脸在一个孩子。活组织检查显示骨瘤表皮表面有异位骨形成的深层组织，包括骨骼肌。外周血白细胞DNA分析显示编码腺苷酸环化酶（GNAS1）刺激G蛋白α亚基的基因发生突变，证实了进行性骨异质增生的诊断。(C) 2003 Wiley-Liss, Inc。
We describe a rare case of progressive osseous heteroplasia of the face in a child. Biopsy showed osteoma cutis superficially with ectopic bone formation in the deeper tissues including skeletal muscle. Analysis of DNA from peripheral blood leukocytes showed mutations in the gene encoding the alpha subunit of the stimulatory G protein of adenylyl cyclase (GNAS1), confirming the diagnosis of progressive osseous heteroplasia. (C) 2003 Wiley-Liss, Inc.