| Syndrome identification based on 2D analysis software. | |
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MedLine Citation:
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PMID: 16773127 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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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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Authors:
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Stefan Boehringer; Tobias Vollmar; Christiane Tasse; Rolf P Wurtz; Gabriele Gillessen-Kaesbach; Bernhard Horsthemke; Dagmar Wieczorek |
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Publication Detail:
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Type: Journal Article; Research Support, Non-U.S. Gov't Date: 2006-06-14 |
Journal Detail:
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Title: European journal of human genetics : EJHG Volume: 14 ISSN: 1018-4813 ISO Abbreviation: Eur. J. Hum. Genet. Publication Date: 2006 Oct |
Date Detail:
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Created Date: 2006-09-26 Completed Date: 2006-11-02 Revised Date: 2006-11-15 |
Medline Journal Info:
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Nlm Unique ID: 9302235 Medline TA: Eur J Hum Genet Country: England |
Other Details:
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Languages: eng Pagination: 1082-9 Citation Subset: IM |
Affiliation:
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Institut für Humangenetik, Universitätsklinikum Essen, Essen, Germany. correspondence@s-boehringer.org |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Adolescent Adult Child Child, Preschool Craniofacial Abnormalities / diagnosis Diagnosis, Computer-Assisted / methods* Facies* Female Humans Infant Male Pattern Recognition, Automated* Reproducibility of Results Software* Syndrome* |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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