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泪腺-耳-齿-指综合征患者的口腔颌面表现

Orodental Findings in Patients with Lacrimo-Auriculo-Dento-Digital Syndrome.

作者信息

Vicioni-Marques Fernanda, Meireles de Sousa Sifia Sampaio, de Carvalho Fabrício Kitazono, de Oliveira Sara Silva, Paes Torres Carolina, de Queiroz Alexandra Mussolino

机构信息

PhD candidate, Department of Pediatric Dentistry, School of Dentistry of Ribeirão Preto, University of São Paulo, Ribeirão Preto, São Paulo, Email:

Pediatric dentist, General Hospital of the Army, Fortaleza, Ceara.

出版信息

J Dent Child (Chic). 2019 Jan 15;86(1):53-60.

Abstract

Lacrimo-auriculo-dento-digital syndrome (LADD) is a rare autosomal dominant disorder arising from heterozygous mutations in the genes encoding fibroblast growth factor receptors two and three and the gene encoding the fibroblast growth factor 10. The characteristics associated with LADD are mainly related with hypoplasia or aplasia of lacrimal and salivary ducts, low cup-shaped ears, sensorineural or conductive hearing loss, abnormalities of teeth, and anomalies of the hands and feet. The purpose of this paper is to describe a 13-year-old female patient with a history of a blocked tear duct, mild hearing loss, congenitally missing teeth, tauro- dontism, and malformation of the fingers who was referred for a dental evaluation. She was diagnosed with LADD syndrome based on her clinical picture.
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摘要

泪腺-耳-齿-指综合征(LADD)是一种罕见的常染色体显性疾病,由编码成纤维细胞生长因子受体2和3的基因以及编码成纤维细胞生长因子10的基因的杂合突变引起。与LADD相关的特征主要与泪腺和唾液导管发育不全或发育不全、低杯状耳、感音神经性或传导性听力损失、牙齿异常以及手足畸形有关。本文的目的是描述一名13岁女性患者,她有泪道阻塞、轻度听力损失、先天性缺牙、牛牙症和手指畸形的病史,因牙科评估前来就诊。根据她的临床表现,她被诊断为LADD综合征。

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