Distinctive facial features in idiopathic Moyamoya disease in Caucasians: a first systematic analysis
Background Craniofacial dysmorphic features are morphological changes of the face and skull which are associated with syndromic conditions. Moyamoya angiopathy is a rare cerebral vasculopathy that can be divided into Moyamoya syndrome, which is associated or secondary to other diseases, and into idi...
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PeerJ Inc.
2018-06-01
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| author | Markus Kraemer Quoc Bao Huynh Dagmar Wieczorek Brunilda Balliu Barbara Mikat Stefan Boehringer |
| author_facet | Markus Kraemer Quoc Bao Huynh Dagmar Wieczorek Brunilda Balliu Barbara Mikat Stefan Boehringer |
| author_sort | Markus Kraemer |
| collection | DOAJ |
| description | Background Craniofacial dysmorphic features are morphological changes of the face and skull which are associated with syndromic conditions. Moyamoya angiopathy is a rare cerebral vasculopathy that can be divided into Moyamoya syndrome, which is associated or secondary to other diseases, and into idiopathic Moyamoya disease. Facial dysmorphism has been described in rare genetic syndromes with associated Moyamoya syndrome. However, a direct relationship between idiopathic Moyamoya disease with dysmorphic facial changes is not known yet. Methods Landmarks were manually placed on frontal photographs of the face of 45 patients with bilateral Moyamoya disease and 50 matched controls. After procrustes alignment of landmarks a multivariate, penalized logistic regression (elastic-net) was performed on geometric features derived from landmark data to classify patients against controls. Classifiers were visualized in importance plots that colorcode importance of geometric locations for the classification decision. Results The classification accuracy for discriminating the total patient group from controls was 82.3% (P-value = 6.3×10−11, binomial test, a-priori chance 50.2%) for an elastic-net classifier. Importance plots show that differences around the eyes and forehead were responsible for the discrimination. Subgroup analysis corrected for body mass index confirmed a similar result. Discussion Results suggest that there is a resemblance in faces of Caucasian patients with idiopathic Moyamoya disease and that there is a difference to matched controls. Replication of findings is necessary as it is difficult to control all residual confounding in study designs such as ours. If our results would be replicated in a larger cohort, this would be helpful for pathophysiological interpretation and early detection of the disease. |
| first_indexed | 2024-03-09T06:37:19Z |
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| issn | 2167-8359 |
| language | English |
| last_indexed | 2024-03-09T06:37:19Z |
| publishDate | 2018-06-01 |
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| spelling | doaj.art-7cdc346003f147198c986a573621b79d2023-12-03T10:55:35ZengPeerJ Inc.PeerJ2167-83592018-06-016e474010.7717/peerj.4740Distinctive facial features in idiopathic Moyamoya disease in Caucasians: a first systematic analysisMarkus Kraemer0Quoc Bao Huynh1Dagmar Wieczorek2Brunilda Balliu3Barbara Mikat4Stefan Boehringer5Department of Neurology, Alfried Krupp Hospital Essen, Essen, GermanyDepartment of Neurology, Alfried Krupp Hospital Essen, Essen, GermanyInstitute of Human Genetics, University of Duesseldorf, Duesseldorf, GermanyInstitute of Genetics, Stanford University School of Medicine, Stanford, CA, United States of AmericaInstitute of Human Genetics, University of Essen, Essen, GermanyBiomedical Data Sciences, Leiden University Medical Center, Leiden, The NederlandsBackground Craniofacial dysmorphic features are morphological changes of the face and skull which are associated with syndromic conditions. Moyamoya angiopathy is a rare cerebral vasculopathy that can be divided into Moyamoya syndrome, which is associated or secondary to other diseases, and into idiopathic Moyamoya disease. Facial dysmorphism has been described in rare genetic syndromes with associated Moyamoya syndrome. However, a direct relationship between idiopathic Moyamoya disease with dysmorphic facial changes is not known yet. Methods Landmarks were manually placed on frontal photographs of the face of 45 patients with bilateral Moyamoya disease and 50 matched controls. After procrustes alignment of landmarks a multivariate, penalized logistic regression (elastic-net) was performed on geometric features derived from landmark data to classify patients against controls. Classifiers were visualized in importance plots that colorcode importance of geometric locations for the classification decision. Results The classification accuracy for discriminating the total patient group from controls was 82.3% (P-value = 6.3×10−11, binomial test, a-priori chance 50.2%) for an elastic-net classifier. Importance plots show that differences around the eyes and forehead were responsible for the discrimination. Subgroup analysis corrected for body mass index confirmed a similar result. Discussion Results suggest that there is a resemblance in faces of Caucasian patients with idiopathic Moyamoya disease and that there is a difference to matched controls. Replication of findings is necessary as it is difficult to control all residual confounding in study designs such as ours. If our results would be replicated in a larger cohort, this would be helpful for pathophysiological interpretation and early detection of the disease.https://peerj.com/articles/4740.pdfMoyamoya diseaseIdiopathicResemblanceFaceGenetic causesPhotographs |
| spellingShingle | Markus Kraemer Quoc Bao Huynh Dagmar Wieczorek Brunilda Balliu Barbara Mikat Stefan Boehringer Distinctive facial features in idiopathic Moyamoya disease in Caucasians: a first systematic analysis PeerJ Moyamoya disease Idiopathic Resemblance Face Genetic causes Photographs |
| title | Distinctive facial features in idiopathic Moyamoya disease in Caucasians: a first systematic analysis |
| title_full | Distinctive facial features in idiopathic Moyamoya disease in Caucasians: a first systematic analysis |
| title_fullStr | Distinctive facial features in idiopathic Moyamoya disease in Caucasians: a first systematic analysis |
| title_full_unstemmed | Distinctive facial features in idiopathic Moyamoya disease in Caucasians: a first systematic analysis |
| title_short | Distinctive facial features in idiopathic Moyamoya disease in Caucasians: a first systematic analysis |
| title_sort | distinctive facial features in idiopathic moyamoya disease in caucasians a first systematic analysis |
| topic | Moyamoya disease Idiopathic Resemblance Face Genetic causes Photographs |
| url | https://peerj.com/articles/4740.pdf |
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