| 矮小相关综合征 |
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| 引用本文： | 皮亚雷,张亚男,李玉倩,崇禾萌,张会丰.矮小相关综合征[J].临床荟萃,2019,34(10):885. |
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| 作者姓名： | 皮亚雷 张亚男 李玉倩 崇禾萌 张会丰 |
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| 作者单位： | 河北医科大学第二医院 儿科，河北 石家庄 050000 |
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| 摘 要： | 矮小病因复杂，多种遗传因素及环境因素均可导致矮小。目前已知遗传因素所致矮小相关综合征越来越多，对于存在骨骼畸形、多脏器多系统受累及特殊面容患儿，应根据临床基础信息选择恰当分子遗传学检测技术以明确诊断，为治疗和遗传咨询提供依据。
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| 关 键 词： | 矮小 综合征 染色体 基因 |
Short stature related syndromes |
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| Pi Yalei,Zhang Yanan,Li Yuqian,Chong Hemeng,Zhang Huifeng.Short stature related syndromes[J].Clinical Focus,2019,34(10):885. |
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| Authors: | Pi Yalei Zhang Yanan Li Yuqian Chong Hemeng Zhang Huifeng |
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| Affiliation: | Department of Paediatrics, the Second Hospital of Hebei Medical University, Shijiazhuang 050000, China |
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| Abstract: | The etiology of short stature is complex. There is a variety of genetic and environmental factors can lead to short stature. So far, there are more and more known genetic factors leading to short stature related syndromes. For children with bone deformity, multiple organs and systems involvement and special facial appearance, appropriate molecular genetic detection techniques should be selected according to clinical basic information to make a definite diagnosis, so as to provide basis for treatment and genetic counseling. |
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| Keywords: | short stature syndrome chromosome gene |
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