Distinctive facial features in idiopathic Moyamoya disease in Caucasians: a first systematic analysis

PeerJ

article

Markus Kraemer¹  Quoc Bao Huynh¹  Dagmar Wieczorek³  Brunilda Balliu⁵  Barbara Mikat⁴  Stefan Boehringer⁶ 

[1] Department of Neurology, Alfried Krupp Hospital Essen;Department of Neurology, University Clinic of Duesseldorf;Institute of Human Genetics, University of Duesseldorf;Institute of Human Genetics, University of Essen;Institute of Genetics, Stanford University School of Medicine;Biomedical Data Sciences, Leiden University Medical Center

关键词: Moyamoya disease;    Idiopathic;    Resemblance;    Face;    Genetic causes;    Photographs;   

DOI  :  10.7717/peerj.4740

学科分类：社会科学、人文和艺术（综合）

来源: Inra

【 摘 要 】

BackgroundCraniofacial 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.MethodsLandmarks 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.ResultsThe 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.DiscussionResults 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.

【 授权许可】

CC BY