| Literature DB >> 31320746 |
Magdalena Danyel1,2, Zhuo Cheng1, Christine Jung3, Felix Boschann1, Jean Tori Pantel1,4, Nurulhuda Hajjir1,5, Ricarda Flöttmann1, Solveig Schulz6, Ilja Demuth7,8, Eamonn Sheridan9,10, Stefan Mundlos1,8,11, Denise Horn1, Martin A Mensah12,13.
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.Entities:
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Year: 2019 PMID： 31320746 PMCID： PMC6871132 DOI： 10.1038/s41431-019-0469-3
Source DB: PubMed Journal: Eur J Hum Genet ISSN： 1018-4813 Impact factor: 4.246