Mowat-Wilson Syndrome (MWS) is a rare syndrome characterized by the presence of facial gestalt and delayed psychomotor development, variably associated with intellectual disability, epilepsy, Hirschsprung's disease (HSCR) and multiple congenital malformations.
Although there is evidence of the presence of dental and craniofacial anomalies in MWS, little epidemiological data is available to date.
The goal of this observational study is to assess oral health and dento-facial phenotype of people affected by Mowat-Wilson Syndrome (MWS). In addition, the Oral Health Related Quality of Life (OHRQoL) will be investigated.
individuals affected by MWS with confirmed molecularly diagnosis of ZEB2 gene variation.
written informed consent statement signed by parents/legal guardians for participation in the study
individuals not affected by MWS
refusal of parents/legal guardians to participate in the study
Partecipants will be enrolled from those who will attend the annual meeting of the Italian Mowat Wilson Association
Case-only
Cross-sectional
Not listed
Dental caries assessment
Dental caries will be measured as follows: * frequency of individuals with dental caries * distribution of patients' dental caries experience according to the individual DMFT index score (ranging from 0 to 28, where zero is equivalent to "no dental caries experience" and 28 that all teeth have been affected) * localization (type of tooth; permanent/decidous teeth) and severity of dental caries according to the ICDAS index (ranging from 0 to 6, where zero is equivalent to "sound tooth" and 6 to "extensive cavity with visible dentin")
Facial morphometric assessment
Facial soft tissue characteristics will be measured by 2D and 3D analysis performed on frontal/lateral photographs of the face and 3D face scanning, respectively. Extraoral facial photographs will be used for 2D facial morphometric analysis, both frontal and profile views, using OrthoTP® software (Microlab, Italy). 3D facial morphometric analysis will be performed on the 3D reconstructions of the subjects' facial scans using VAM software (Canfield Scientific, Inc., Parsippany, NJ, USA). The reference landmarks and planes for both 2D and 3D facial morphometric analyses were selected according to international criteria and previously validated protocols that have also been applied in the study of subjects with facial dysmorphisms. The values obtained will be compared with reference values reported in the literature for the general population matched for age and sex.
Cephalometric assessment
Dento-skeletal characteristics will be measured by cephalometric analysis performed on lateral skull radiographs of patients, if previously performed and provided by the parents/guardians. Cephalometric tracings and measures will be performed using OrthoTP® software (Microlab, Italy). The cephalometric analysis method that will be adopted is that of the Milan School of Orthodontics, which includes several analyses commonly used in orthodontics and internationally validated.
Dental arch assessment
Molar and canine Angle's dental arch relationships, frequency and degree of dental crowding/spacing, dental arch widths (intercanine, interpremolar, and intermolar widths) and depth will be assessed on patient's intraoral digital scans using VAM software (Canfield Scientific, Inc., Parsippany, NJ, USA).
Phenotype and genotype association
Correlation between genotype and phenotype will be investigated by analyzing the association between the dental, occlusal, and facial characteristics observed and the three main genetic variants of mutation of the ZEB2 gene (complete deletion; absence of protein; defective protein) through Chi-squared and Fisher's exact tests.
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University of Milan
Lead sponsor
Associazione Italiana Mowat Wilson (Mowat Wilson Italian Association)
Collaborator
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