Title: | P14.041A – the utility of computer-assisted facial recognition in the etiologic diagnosis of patients with global developmental delay & intellectual disability |
Keywords: | face2gene; global developmental delay; intellectual disability |
Authors: | L. Morlan, M. Garcia jimenez, J. Lopez pison, J. Peña Segura, L. Monge Galindo, A. Lopez Lafuente, M. Lafuente, S. Izquierdo, A. Rodriguez, M. Miramar, S. Feo, G. Miguel, M. Tirado, L. Lahilla; Aragon Institute for Health Research, ZARAGOZA, Spain. |
Abstract: | Introduction: global developmental delay (GDD) and intellectual disability (ID) are the most frequent reason for consultation in the neuro-pediatrics outpatients, with a prevalence of 1-10% of cases. Of these, 50-80% of patients do not have a set etiologic diagnosis. The aim of this study is to evaluate the efficiency of the computer program Face2Gene (FDNA Inc, USA) as a diagnostic aid in clinical practice, for cases of GDD and ID followed in a tertiary hospital. Material and Methods: Double blinded prospective observational study. Face2Gene is a search and reference tool designed for the exclusive use of medical staff. Through the analysis of clinical findings and automated recognition of facial traits, the program suggests 30 possible diagnosis per patient. Our study correlates these proposed syndrome matches with genomic data of the patients attending our clinic, after adding the frontal photo and the clinical features of the patient. Results: 91 patients, ages 6 month to 20 years, have been uploaded to Face2Gene, of which 21 have a molecular diagnosis. Face2Gene recognized 7 of these. For 70 patients we are waiting for molecular results. We will consider Face2Gene a useful tool if in at least 10% of the patients, one of the suggested syndrome matches does coincide with the molecular diagnosis of the patient. Conclusion: If the results are positive at the end of this study, this could be considered a shortening of the diagnostic odyssey of the patient as well as an increase in the rate of etiologic diagnostics. |
Presentation Time: | Sunday, May 28, 2017, 10:15 AM -11:15 AM |
More entries about Scientific Abstracts
FDNA and Face2Gene Featured at ESHG
A flock of researchers from around the globe shared their findings in dysmorphology and molecular genetics at this year’s Read more
Phenotype analysis of congenital and neurodevelopmental disorders in the next generation sequencing era
Am J Med Genet C Semin Med Genet. 2017 Sep;175(3):320-328. doi: 10.1002/ajmg.c.31568. Epub 2017 Aug 2. Carey JC. Abstract: The designation, Read more
S. Odent, et al. Interest of searching dysmorphic features in Autism Spectrum Disorder: Comparison of clinical geneticists and Face2Gene photos analyses
Title: P09.022B – Interest of searching dysmorphic features in Autism Spectrum Disorder: Comparison of clinical geneticists and Face2Gene photos analyses Read more
N. Ekhilevitch, et al. Automated patient matching from facial photos – initial feasibility study
Title: P14.075C – Automated patient matching from facial photos – initial feasibility study Automated patient matching from facial photos – Read more
S. B. Kamphausen, M. Zenker. From Face to Gene – Identifying the Genotype of RASopathies with FDNA. ESHG 2017
Title: P14.083C – From Face to Gene – Identifying the Genotype of RASopathies with FDNA Keywords: RASopathies; Facial Dysmorphology Novel Read more
M. A. Mencarelli, et al. Clinical Application of a Facial Dysmorphology Tool: a performance analysis
Title: P14.042B – Clinical Application of a Facial Dysmorphology Tool: a performance analysis Keywords: Facial Dysmorphology Tool Authors: D. Lopergolo1, Read more
L. Morlan. The utility of computer-assisted facial recognition in the etiologic diagnosis of patients with global developmental delay & intellectual disability
Title: P14.041A – the utility of computer-assisted facial recognition in the etiologic diagnosis of patients with global developmental delay & Read more
T. Liehr. Next generation phenotyping in Emanuel and Pallister Killian syndrome using computer-aided facial dysmorphology analysis of 2D photos
Title: P14.003C – Next generation phenotyping in Emanuel and Pallister Killian syndrome using computer-aided facial dysmorphology analysis of 2D photos Read more
Himanshu Goel, et al. Case study: Next-generation phenotyping complementing next generation sequencing
Abstract Number: (501) Case study: Next-generation phenotyping complementing next generation sequencing Topic: Clinical Genetics Presenting Author: Himanshu Goel Co-Authors: Z. Yüksel, Centogene AG, Rostock, Read more
B. Russell, et al. Bohring-Opitz Syndrome Patient Support Group an Essential Element for Optimizing Facial Dysmorphism Recognition Software Tool
Abstract Number: (384) Bohring-Opitz Syndrome Patient Support Group an Essential Element for Optimizing Facial Dysmorphism Recognition Software Tool Topic: Clinical Genetics Presenting Read more