Dhanya Lakshmi Narayanan1, Prajnya Ranganath2, Shagun Aggarwal2, Ashwin Dalal3, Shubha R Phadke4, Kaushik Mandal4. 1. Department of Medical Genetics, Nizam's Institute of Medical Sciences, Hyderabad, Andhra Pradesh, India. Correspondence to: Dr Dhanya Lakshmi Narayanan, Assistant Professor, Department of Medical Genetics, Nizam's Institute of Medical Sciences, Hyderabad , Andhra Pradesh, India. dhanyalakshmi@gmail.com. 2. Department of Medical Genetics, Nizam's Institute of Medical Sciences, Hyderabad, Andhra Pradesh, India. 3. Diagnostics, Centre and DNA Fingerprinting and Diagnosis, Hyderabad, Andhra Pradesh, India. 4. Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Lucknow, Uttar Pradesh, India.
Abstract
OBJECTIVE: To assess the utility of computer-aided facial analysis in identifying dysmorphic syndromes in Indian children. METHODS: Fifty-one patients with a definite molecular or cytogenetic diagnosis and recognizable facial dysmorphism were enrolled in the study and their facial photographs were uploaded in the Face2Gene software. The results provided by the software were compared with the molecular diagnosis. RESULTS: Of the 51 patients, the software predicted the correct diagnosis in 37 patients (72.5%); predicted as the first in the top ten suggestions in 26 (70.2%). In 14 patients, the software did not suggest a correct diagnosis. CONCLUSIONS: Computer-aided facial analysis is a method that can aid in diagnosis of genetic syndromes in Indian children. As more clinicians start to use this software, its accuracy is expected to improve.
OBJECTIVE: To assess the utility of computer-aided facial analysis in identifying dysmorphic syndromes in Indian children. METHODS: Fifty-one patients with a definite molecular or cytogenetic diagnosis and recognizable facial dysmorphism were enrolled in the study and their facial photographs were uploaded in the Face2Gene software. The results provided by the software were compared with the molecular diagnosis. RESULTS: Of the 51 patients, the software predicted the correct diagnosis in 37 patients (72.5%); predicted as the first in the top ten suggestions in 26 (70.2%). In 14 patients, the software did not suggest a correct diagnosis. CONCLUSIONS: Computer-aided facial analysis is a method that can aid in diagnosis of genetic syndromes in Indian children. As more clinicians start to use this software, its accuracy is expected to improve.
Authors: Jean Tori Pantel; Nurulhuda Hajjir; Magdalena Danyel; Jonas Elsner; Angela Teresa Abad-Perez; Peter Hansen; Stefan Mundlos; Malte Spielmann; Denise Horn; Claus-Eric Ott; Martin Atta Mensah Journal: J Med Internet Res Date: 2020-10-22 Impact factor: 5.428