Diagnostically relevant facial gestalt information from ordinary photos.
Bottom Line: The space locates patients in the context of known syndromes and thereby facilitates the generation of diagnostic hypotheses.Consequently, the approach will aid clinicians by greatly narrowing (by 27.6-fold) the search space of potential diagnoses for patients with suspected developmental disorders.Furthermore, this Clinical Face Phenotype Space allows the clustering of patients by phenotype even when no known syndrome diagnosis exists, thereby aiding disease identification.
Affiliation: Department of Engineering Science, University of Oxford, Oxford, United Kingdom Medical Research Council Functional Genomics Unit, Department of Physiology, Anatomy and Genetics, University of Oxford, Oxford, United Kingdom.Show MeSH
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Mentions: For any given image located in Clinical Face Phenotype Space, we obtain confidence ranked classifications to known disorders (see 'Materials and methods' and Figure 4—figure supplement 4). In addition, we objectively compare the image to others within the space. For any given query image, a probabilistic ranking of similar syndromes is obtained through nearest neighbor representation compared to random expectation of clustering among the 90 syndromes and 2754 faces. The classification confidence for a particular disorder depends on its location within the space, but also on the local densities of similar faces. We find that for the eight initial syndromes used to construct Clinical Face Phenotype Space, 93.1% (range 81.0–99.2%) are correctly classified as the top rank, cumulatively converging on 99.1% (95.8–100%) by the 20th rank (Figure 4B). Of syndromes not part of the Clinical Face Phenotype Space training, the classification accuracies positively correlated strongly with the number of instances in the database (Figure 4B). For the 20 syndromes where the database held 5 or fewer examples (Table 1), we classify on average 20.3% correctly by the 6th rank (exceeding 16.3-fold better than by chance alone).
Affiliation: Department of Engineering Science, University of Oxford, Oxford, United Kingdom Medical Research Council Functional Genomics Unit, Department of Physiology, Anatomy and Genetics, University of Oxford, Oxford, United Kingdom.