Ferreira S-B-P, Viana M-M, Maia N-G-F, Leão L-L, Machado R-A, Coletta R-D, de Aguiar M-J-B, Martelli-Júnior H
Health Science Program, State University of Montes Claros, Av. Cula Mangabeira 562 - Santo Expedito, Montes Claros - MG, 39401-001 Montes Claros - Minas Gerais - Brazil,
Med Oral Patol Oral Cir Bucal. 2018 Jan 1;23(1):e1-e6. doi: 10.4317/medoral.21834.
Williams-Beuren syndrome (WBS; OMIM #194050) is a developmental disorder characterized by congenital heart disease, intellectual disability, dysmorphic facial features and ophthalmologic abnormalities. Oral abnormalities are also described in clinical manifestations of the disease. This paper describes orofacial features in patients with WBS.
Seventeen patients with a confirmed molecular diagnosis of WBS were examined for oral abnormalities through clinical oral evaluations and panoramic radiography.
Malocclusion, specifically with dental midline deviation, and high-arched palate were the most common findings.
The present results contribute to knowledge on the orofacial manifestations of WBS. Since such patients with WBS may develop severe oral abnormalities, early detection and treatment can help improve their quality of life.
威廉姆斯-贝伦综合征（WBS；OMIM #194050）是一种发育障碍，其特征为先天性心脏病、智力残疾、面部畸形特征和眼科异常。该疾病的临床表现中也描述了口腔异常。本文描述了WBS患者的口面部特征。
对17例经分子诊断确诊为WBS的患者进行临床口腔评估和全景X线摄影，以检查口腔异常情况。
错牙合畸形，特别是牙中线偏移和高拱腭是最常见的表现。
目前的结果有助于了解WBS的口面部表现。由于这类WBS患者可能会出现严重的口腔异常，早期发现和治疗有助于提高他们的生活质量。
