Automated syndrome detection in a set of clinical facial photographs

American Journal of Medical Genetics, Part A

Volumn 155, Issue 9, 2011, Pages 2161-2169

  Boehringer, Stefan ^a,b   Guenther, Manuel ^c   Sinigerova, Stella ^a   Wurtz, Rolf P ^c   Horsthemke, Bernhard ^a   Wieczorek, Dagmar ^a  

^a UNIVERSITY HOSPITAL ESSEN   (Germany)

^b LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

^c RUHR UNIVERSITY BOCHUM   (Germany)

Author keywords

Classification; Clinical diagnosis; Dysmorphism; Face; Syndrome diagnosis

Indexed keywords

ADOLESCENT; ARTICLE; CHILD; CLASSIFICATION; CLASSIFIER; CLINICAL PRACTICE; COMPUTER ASSISTED DIAGNOSIS; COMPUTER PROGRAM; DATA ANALYSIS; DECISION SUPPORT SYSTEM; DIAGNOSTIC ACCURACY; GENETIC DISORDER; HUMAN; IMAGE ANALYSIS; IMAGE RECONSTRUCTION; MAJOR CLINICAL STUDY; MEDICAL PHOTOGRAPHY; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; STATISTICAL ANALYSIS; SYNDROME;

ADOLESCENT; ADULT; ALGORITHMS; CHILD; CHILD, PRESCHOOL; CONGENITAL ABNORMALITIES; DIAGNOSIS, COMPUTER-ASSISTED; FACE; HUMANS; INFANT; MIDDLE AGED; PATTERN RECOGNITION, AUTOMATED; PHENOTYPE; SOFTWARE; SYNDROME;

EID: 84860420468     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.34157     Document Type: Article

References (14)

1. Boehringer S, Vollmar T, Tasse C, Wurtz RP, Gillessen-Kaesbach G, Horsthemke B, Wieczorek D. 2006. Syndrome identification based on 2D analysis software. Eur J Hum Genet 14: 1082-1089.
2. Hastie T, Tibshirani R, Friedman J. 2001. The elements of statistical learning: Data mining, inference, and prediction. Springer.
3. Loos HS, Wieczorek D, Würtz RP, von der Malsburg C, Horsthemke B. 2003. Computer-based recognition of dysmorphic faces. Eur J Hum Genet 11: 555-560.
4. Marquet C. 1987. P.O.S.S.U.M. user's manual. Melbourne: C.P. Export Pty Ltd.
5. McKusick VA. 1998. Mendelian inheritance in man. A catalog of human genes and genetic disorders, 12th edition. Baltimore: Johns Hopkins University Press.
6. Molinaro AM, Simon R, Pfeiffer RM. 2005. Prediction error estimation: A comparison of resampling methods. Bioinformatics 21: 3301-3307.
7. R Development Team. 2008. R: A language and environment for statistical computing. Vienna, Austria: R Foundation for Statistical Computing.
8. Schneider HJ, Kosilek RP, Gunther M, Roemmler J, Stalla GK, Sievers C, Reincke M, Schopohl J, Wurtz RP. 2011. A Novel approach to the detection of acromegaly: Accuracy of diagnosis by automatic face classification. J Clin Endocrinol Metab jc. 2011-0237, in press.
9. Taubman DS, Marcellin MW, Rabbani M. 2002. JPE G2000: Image compression fundamentals, standards and practice. J Electron Imaging 11: 286.
10. Venables WN, Ripley BD. 2002. Modern applied statistics with S. New York, USA: Springer.
11. Vollmar T, Maus B, Wurtz RP, Gillessen-Kaesbach G, Horsthemke B, Wieczorek D, Boehringer S. 2008. Impact of geometry and viewing angle on classification accuracy of 2D based analysis of dysmorphic faces. Eur J Med Genet 51: 44-53.
12. Winter RM. 1996. What's in a face? Nat Genet 12: 124-129.
13. Winter RM, Baraitser M. 2002. London dysmorphology database, version 3.
14. Wiskott L, von Der Malsburg C. 1996. Recognizing faces by dynamic link matching. Neuroimage 4: 14-18.