Oral findings in Williams-Beuren syndrome

Abstract

BackgroundWilliams-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.Material and MethodsSeventeen patients with a confirmed molecular diagnosis of WBS were examined for oral abnormalities through clinical oral evaluations and panoramic radiography.ResultsMalocclusion, specifically with dental midline deviation, and high-arched palate were the most common findings.ConclusionsThe 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. Key words:Congenital abnormalities, Orofacial features, Williams-Beuren syndrome.

Determination of craniofacial and dental characteristics of individuals with Williams‐Beuren syndrome by using 3D facial scans and radiographs

“…While on average 5.5% of the general population is missing at least one tooth, 23 we found at least 1 genetic tooth in 33% of our study population, which is higher than the results of Ferreira et al who found agenesis in only 3 subjects (17%) of their study population. 24 Even though this study group had the same size as ours, it only included 2-year-old subjects, making agenesis of permanent teeth impossible to detect.…”

William-Beuren Syndrome: Comprehensive Dental Care in Child Patient

“…3,14 Enamel hypoplasia is the one of dental manifestations in WBS which can increase the risk of dental caries, and the parents' focus of medical treatment on patients can cause less attention to oral hygiene. 6,7 In another case reported, a 28-month-old boy diagnosed with WBS with cardiovascular disease received dental treatment under pharmacological behavior management (general anesthesia). Somatic and emotional stress, such as pain, fear, excitement, and anxiety caused by the conventional dental treatment could lead to a cardiovascular exacerbation.…”

“…[3][4][5] Craniofacial characteristics of children with William-Beuren syndrome including a broad forehead, bitemporal narrowing, narrow nasal bridge, periorbital fulness, malar flattening, long philtrum, wide mouth, thick lips vermillion, and prominent earlobes, deficient chin bone and micrognathia, and oral manifestation include malformed teeth, enamel hypoplasia, excessive interdental spacing, high arched palate, high prevalence of dental caries. 6,7 Dental manifestations in this syndrome are malocclusion, enamel hypoplasia, malformed teeth, and dental caries. Enamel hypoplasia is the one of dental manifestations in WBS which increased the risk of dental caries.…”

The role of dental phenotypes in the diagnosis of rare diseases: Multiprofessional experience

“…In addition to the improvement in the diagnosis and clinical management of patients, some studies have been developed in this collaboration, such as "Phenotypic and genotypic evaluation of patients affected with Pfeiffer's Syndrome". 6 We have also studied the orodental features in patients affected with Williams-Beuren syndrome, 7 and Wolf-Hirschhorn syndrome. 8 Highlighting the role of the dentist in the multidisciplinary team, the HPO system 2 lists in the category "oral cavity-teeth" 19 phenotypic changes associated with well-established genetic syndromes.…”