Dataset Information

Differentiation of MISSLA and Fanconi anaemia by computer-aided image analysis and presentation of two novel MISSLA siblings.

ABSTRACT: Variants in DONSON were recently identified as the cause of microcephaly, short stature, and limb abnormalities syndrome (MISSLA). The clinical spectra of MISSLA and Fanconi anaemia (FA) strongly overlap. For that reason, some MISSLA patients have been clinically diagnosed with FA. Here, we present the clinical data of siblings with MISSLA featuring a novel DONSON variant and summarize the current literature on MISSLA. Additionally, we perform computer-aided image analysis using the DeepGestalt technology to test how distinct the facial features of MISSLA and FA patients are. We show that MISSLA has a specific facial gestalt. Notably, we find that also FA patients feature facial characteristics recognizable by computer-aided image analysis. We conclude that computer-assisted image analysis improves diagnostic precision in both MISSLA and FA.

SUBMITTER: Danyel M

PROVIDER: S-EPMC6871132 | biostudies-literature | 2019 Dec

REPOSITORIES: biostudies-literature

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Publications

Differentiation of MISSLA and Fanconi anaemia by computer-aided image analysis and presentation of two novel MISSLA siblings.

Danyel Magdalena M Cheng Zhuo Z Jung Christine C Boschann Felix F Pantel Jean Tori JT Hajjir Nurulhuda N Flöttmann Ricarda R Schulz Solveig S Demuth Ilja I Sheridan Eamonn E Mundlos Stefan S Horn Denise D Mensah Martin A MA

European journal of human genetics : EJHG 20190718 12

Variants in DONSON were recently identified as the cause of microcephaly, short stature, and limb abnormalities syndrome (MISSLA). The clinical spectra of MISSLA and Fanconi anaemia (FA) strongly overlap. For that reason, some MISSLA patients have been clinically diagnosed with FA. Here, we present the clinical data of siblings with MISSLA featuring a novel DONSON variant and summarize the current literature on MISSLA. Additionally, we perform computer-aided image analysis using the DeepGestalt ...[more]

PMID: 31320746

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Project description:BackgroundAlthough miniscrews are widely used in orthodontic treatment as temporary anchorage devices, their correct and safe placement has attracted little attention. This study aimed to introduce a novel cone beam CT (CBCT) image-based computer aided design and computer aided manufacturing (CAD-CAM) template for orthodontic miniscrew implantation and to evaluate the effectiveness of miniscrews implanted under the guidance of this template.MethodsThe CBCT scans of ten patients requiring miniscrews as anchorage were analyzed in NNT software to predetermine the insertion sites of miniscrew implants. The DICOM data of the scans, along with virtual miniscrews acquired in Solidworks software, were imported into Mimics software to construct three-dimensional (3D) images of teeth and bone and to determine the virtual position of miniscrews and 3D virtual templates were designed following consideration of the virtual implantation plans. A STL (Stereolithography) file of the virtual template was output, and the resin template was then fabricated with a stereolithographic appliance (SLA). 24 Miniscrews were then implanted guided by the template and clinical evaluation of their safety and stability, as well as their placement deviations, were made. A dental casts model and cephalometric analysis before and after orthodontic treatment were made to assess the dentomaxillofacial changes.ResultsAll 24 miniscrews had no contact with adjacent roots. 18 miniscrews had a grade I safety score and six had a grade II. The miniscrews were stable at 1, 3, 6, and 9 months after implantation, although there was mild inflammation around two miniscrews. Implantation deviation of miniscrew in the crown was (1.03±0.65) and (1.26±0.72) mm in the apex, on average. Satisfactory dentomaxillofacial changes in 10 patients with these 24 miniscrews as anchorage were acquired.ConclusionsMiniscrews could be implanted in the targeted position safely and precisely when guided by the novel templates, and remained stable during orthodontic treatment. Patients treated with these miniscrews as anchorage in orthodontic treatment acquired satisfactory dentomaxillofacial changes.

Dataset Information

Differentiation of MISSLA and Fanconi anaemia by computer-aided image analysis and presentation of two novel MISSLA siblings.

Publications

Differentiation of MISSLA and Fanconi anaemia by computer-aided image analysis and presentation of two novel MISSLA siblings.

Similar Datasets

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