Clinical and radiologic findings in an adult male with dysosteosclerosis
Clinical and radiologic findings in an adult male with dysosteosclerosis
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DOI：
10.1002/ajmg.a.32182
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发表时间：
2008-02-15
影响因子：
2
通讯作者：
Wiebe, Sheldon
中科院分区：
文献类型：
--
作者：
Lemire, Edmond G.;Wiebe, Sheldon
骨发育不良是一种罕见的常染色体隐性遗传性骨骼发育不良，其特征是骨质疏松和扁平脊椎。Houston等人[1978]首次发表了一例来自我们机构的17岁男性的骨代谢障碍病例。该患者已存活至成年期，据我们所知，是唯一报告的患有甲状腺功能障碍的成年人。我们将回顾我们的病人的临床和影像学特征。(c)2008 Wiley-Liss，Inc.
Dysosteosclerosis is a rare autosomal recessive skeletal dysplasia characterized by osteosclerosis and platyspondyly. A case of dysosteosclerosis in a 17-year-old male from our institution was first published by Houston et al. [1978]. This patient has survived into adulthood and to our knowledge, is the only reported adult with dysosteosclerosis. We will review the clinical and radiographic features in our patient. (c) 2008 Wiley-Liss, Inc.