泪管-耳-齿-指综合征表型与基因特征分析及文献复习

Analysis and literature review of genotype and characteristics of Lacrimo-Auriculo-Dento-Digital syndrome

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，国内尚未有病例报道，对该综合征认识不足易造成漏诊及误诊，本文总结该疾病的基因学特点，对临床症状进行回顾性系统分析，以期提高对该疾病的认识。

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.