ABSTRACT
This article describes the inter- and intra-familial phenotypic variability in four families with WNT10A mutations. Clinical characteristics of the patients range from mild to severe isolated tooth agenesis, over mild symptoms of ectodermal dysplasia, to more severe syndromic forms like odonto-onycho-dermal dysplasia (OODD) and Schöpf-Schulz-Passarge syndrome (SSPS). Recurrent WNT10A mutations were identified in all affected family members and the associated symptoms are presented with emphasis on the dentofacial phenotypes obtained with inter alia three-dimensional facial stereophotogrammetry. A comprehensive overview of the literature regarding WNT10A mutations, associated conditions and developmental defects is presented. We conclude that OODD and SSPS should be considered as variable expressions of the same WNT10A genotype. In all affected individuals, a dished-in facial appearance was observed which might be helpful in the clinical setting as a clue to the underlying genetic etiology.
Subject(s)
Dentofacial Deformities/genetics , Mutation , Pedigree , Wnt Proteins/genetics , Adult , Anodontia/diagnosis , Anodontia/genetics , Child , Child, Preschool , Dentofacial Deformities/diagnosis , Eccrine Glands/abnormalities , Ectodermal Dysplasia/diagnosis , Ectodermal Dysplasia/genetics , Eyelid Neoplasms/diagnosis , Eyelid Neoplasms/genetics , Female , Genetic Variation , Genotype , Humans , Hypotrichosis/diagnosis , Hypotrichosis/genetics , Keratoderma, Palmoplantar/diagnosis , Keratoderma, Palmoplantar/genetics , Male , PhenotypeABSTRACT
The study aims were to assess the precision and time required to conduct cephalometric analysis with cone-beam computed tomography (CBCT) in vivo on both three-dimensional (3D) surface models and multi-planar reformations (MPR) images. Datasets from 10 patients scanned with CBCT were used to create two types of images: 1. axial, coronal, and sagittal MPR images and 2. 3D surface models. Eleven observers identified 22 cephalometric landmarks on 3D surface models first and then using 3D in combination with MPR images twice independently. Tracing time was recorded in both methods. Precision was defined as the absolute difference between an observer's repeated measurements and the mean of all measurements per landmark. Inter- and intra-observer agreements were defined as the absolute difference of the observers' measurements from each other and from their repeated measurements averaged over all landmarks, respectively. The precision of measurements ranged between 0.29 ± 0.17 and 2.82 ± 7.53. Adding MPR alongside, 3D surfaces improved the precision of tracing for 15 of 22 of the landmark but it took on average twice as much time. Mean time required to trace one patient was 6:03 ± 2:48 and 10:41 ± 4:01 minutes for 3D and 3D + MPR, respectively (P = 0.0001).
