Syndrome identification based on 2D analysis software

被引:0
|
作者
Stefan Boehringer
Tobias Vollmar
Christiane Tasse
Rolf P Wurtz
Gabriele Gillessen-Kaesbach
Bernhard Horsthemke
Dagmar Wieczorek
机构
[1] Institut für Humangenetik,
[2] Universitätsklinikum Essen,undefined
[3] Institut für Neuroinformatik,undefined
[4] Ruhr-Universität Bochum,undefined
来源
European Journal of Human Genetics | 2006年 / 14卷
关键词
syndrome diagnosis; face; facial appearance; statistical discrimination; learning;
D O I
暂无
中图分类号
学科分类号
摘要
Clinical evaluation of children with developmental delay continues to present a challenge to the clinicians. In many cases, the face provides important information to diagnose a condition. However, database support with respect to facial traits is limited at present. Computer-based analyses of 2D and 3D representations of faces have been developed, but it is unclear how well a larger number of conditions can be handled by such systems. We have therefore analysed 2D pictures of patients each being affected with one of 10 syndromes (fragile X syndrome; Cornelia de Lange syndrome; Williams–Beuren syndrome; Prader–Willi syndrome; Mucopolysaccharidosis type III; Cri-du-chat syndrome; Smith–Lemli–Opitz syndrome; Sotos syndrome; Microdeletion 22q11.2; Noonan syndrome). We can show that a classification accuracy of >75% can be achieved for a computer-based diagnosis among the 10 syndromes, which is about the same accuracy achieved for five syndromes in a previous study. Pairwise discrimination of syndromes ranges from 80 to 99%. Furthermore, we can demonstrate that the criteria used by the computer decisions match clinical observations in many cases. These findings indicate that computer-based picture analysis might be a helpful addition to existing database systems, which are meant to assist in syndrome diagnosis, especially as data acquisition is straightforward and involves off-the-shelf digital camera equipment.
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页码:1082 / 1089
页数:7
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