| 泪管-耳-齿-指综合征表型与基因特征分析及文献复习 |
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| 引用本文： | 李霞,林垦,苏栋,高映勤,周丽娟,刘秀芬,马静. 泪管-耳-齿-指综合征表型与基因特征分析及文献复习[J]. 中国耳鼻咽喉颅底外科杂志, 2021, 27(3): 356-360 |
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| 作者姓名： | 李霞 林垦 苏栋 高映勤 周丽娟 刘秀芬 马静 |
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| 作者单位： | 昆明市儿童医院 耳鼻咽喉头颈外科, 云南 昆明 650228;昆明市儿童医院 耳鼻咽喉头颈外科, 云南 昆明 650228;昆明市儿童先天出生缺陷防控研究重点实验室, 云南 昆明 650228 |
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| 基金项目： | 昆明医科大学2020年硕士研究生创新基金（2020S249）；云南省儿童听力障碍及语言疾病综合防治省创新团队（2019HC026）；云南省中青年学术和技术带头人后备人才培养项目（2019HB102）；云南省教育厅科学研究基金项目（2020Y0137）。 |
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| 摘 要： | 泪管-耳-齿-指综合征(LADD)是一种累及多系统的遗传性疾病,主要表现有泪道系统发育不全、耳解剖结构和听力异常、唾液系统发育不全、牙齿异常和手指、脚趾发育畸形.目前可确定成纤维细胞生长因子受体2(FGFR2)、3(FGFR3)及成纤维细胞生长因子10(FGF10)是该病的致病基因.该疾病发病率低,症状与其他疾病有重叠...
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| 关 键 词： | 泪管-耳-齿-指综合征 成纤维细胞生长因子 基因测序 回顾分析 |
| 收稿时间： | 2020-11-02 |
Analysis and literature review of genotype and characteristics of Lacrimo-Auriculo-Dento-Digital syndrome |
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| LI Xi,LIN Ken,SU Dong,GAO Yingqin,ZHOU Lijuan,LIU Xiufen,MA Jing. Analysis and literature review of genotype and characteristics of Lacrimo-Auriculo-Dento-Digital syndrome[J]. Chinese Journal of Otorhinolaryngology-skull Base Surgery, 2021, 27(3): 356-360 |
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| Authors: | LI Xi LIN Ken SU Dong GAO Yingqin ZHOU Lijuan LIU Xiufen MA Jing |
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| Affiliation: | Department of Otolaryngology Head and Neck Surgery, Kunming Children''s Hospital, Kunming 650228, China; Department of Otolaryngology Head and Neck Surgery, Kunming Children''s Hospital, Kunming 650228, China;Kunming Key Laboratory for Prevention and Control of Congenital Birth Defects, Kunming 650228, China |
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| Abstract: | Lacrimo-auriculo-dento-digital (LADD) syndrome is a hereditary disease involving in multiple systems. The main manifestations of LADD have lacrimal duct hypoplasia, ear and hearing abnormalities, salivary system hypoplasia, tooth abnormalities and finger dysplasia. At present, it is confirmed that fibroblast growth factor receptor 2 (FGFR2), fibroblast growth factor receptor 3 (FGFR3) and fibroblast growth factor 10 (FGF10) are the causes of the disease. The incidence rate of this disease is low, and its symptoms overlap with other diseases, which are not reported in China. The lack of knowledge of the LADD syndrome is likely to cause missed diagnosis and misdiagnose. This article summarizes the genotype and characteristics of the disease. The clinical symptoms of the LADD were retrospectively and systematically analyzed in order to improve the understanding of the disease. |
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| Keywords: | LADD syndrome Fibroblast growth factor Gene sequencing Retrospective analysis |
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