Clinical, pathological, and genetic evaluations of Chinese patient with otodental syndrome and multiple complex odontoma: Case report.
Clinical, pathological, and genetic evaluations of Chinese patient with otodental syndrome and multiple complex odontoma: Case report.
复制标题
中国耳齿综合征和多发性复杂牙瘤患者的临床、病理和遗传学评估：病例报告。
DOI：
10.1097/md.0000000000006014
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发表时间：
2017-02
期刊：
影响因子：
1.6
通讯作者：
Xuan K
中科院分区：
文献类型：
--
作者：
Liu A;Wu M;Guo X;Guo H;Zhou Z;Wei K;Xuan K
耳牙综合征是一种罕见的常染色体显性疾病，以齿状体畸形为特征，伴有感音神经性高频听力损失。在这里，我们描述的临床，病理和遗传评估的9岁女孩耳牙综合征和多发性复杂牙瘤。患者表现为左颊窦道引流、犬牙畸形和听力丧失。由于牙源性感染，对引起皮肤窦束的牙瘤进行了摘除。对拔除的牙瘤和原牙进行显微ct观察和组织病理学观察。显微ct结果显示，乳牙有三个牙冠，两个分离的牙髓腔，根管部分融合。组织学表现为成牙细胞和牙本质形态异常，牙釉质增生，牙源性上皮畸形。此外，耳聋相关基因GJB2、GJB3和PDS的DNA测序和分析未发现任何SNP或突变；但致病基因FGF3外显子3不能扩增，这可能与11q13.3染色体的微缺失有关。术后3个月，患者无症状，甚至口外窦的证据也消失了。耳牙综合征的牙畸形包括先天性缺牙、齿圆畸形和多发复杂牙瘤。Globodontia表现出融合牙的特征。此外，FGF3基因单倍不足可能是导致耳牙综合征的原因。该报告提供了耳牙综合征领域的一些新信息，这将使牙医更加熟悉这种疾病。
Otodental syndrome is a rare autosomal-dominant disease characterized by globodontia, associated with sensorineural, high-frequency hearing loss. Here, we describe the clinical, pathological, and genetic evaluations of a 9-year-old girl with otodental syndrome and multiple complex odontoma. The patient presented with a draining sinus tract in her left cheek, globodontia, and hearing loss. The odontomas which caused the cutaneous sinus tracts were extracted because of the odontogenic infection. The extracted odontoma and primary tooth was studied by micro-CT and further observed histopathologically. The micro-CT findings revealed that the primary tooth had three crowns with two separated pulp chambers, and their root canals were partially fused. The histological findings showed abnormal morphologies of odontoblasts and dentin, hyperplasia of enamel, and malformation of odontogenic epithelium. Furthermore, DNA sequencing and analyze of deafness associated gene GJB2, GJB3, and PDS had not revealed any SNP or mutation; but exon 3 of the causative gene FGF3 could not be amplified, which may be associated with the microdeletion at chromosome 11q13.3. Three month after surgery, the patient was found to be asymptomatic and even the evidence of the extra-oral sinus had disappeared. The dental abnormality of otodental syndrome included congenital missing teeth, globodontia, and multiple complex odontoma. Globodontia exhibited characteristic features of fusion teeth. In addition, gene FGF3 haploinsufficiency was likely to be the cause of otodental syndrome. The report provides some new information in the field of otodental syndrome, which would make dentists more familiar with this disease.