Computer-aided Facial Analysis in Diagnosing Dysmorphic Syndromes in Indian Children

Dhanya Lakshmi Narayanan; Prajnya Ranganath; Shagun Aggarwal; Ashwin Dalal; Shubha R. Phadke; Kaushik Mandal

doi:10.1007/s13312-019-1682-4

Computer-aided Facial Analysis in Diagnosing Dysmorphic Syndromes in Indian Children

Dhanya Lakshmi Narayanan^*, Prajnya Ranganath, Shagun Aggarwal, Ashwin Dalal, Shubha R. Phadke, Kaushik Mandal

^*Corresponding author for this work

Department of Medical Genetics, Kasturba Medical College, Manipal

Research output: Contribution to journal › Article › peer-review

16 Citations (Scopus)

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.

Original language	English
Pages (from-to)	1017-1019
Number of pages	3
Journal	Indian Pediatrics
Volume	56
Issue number	12
DOIs	https://doi.org/10.1007/s13312-019-1682-4
Publication status	Published - 01-12-2019

All Science Journal Classification (ASJC) codes

Pediatrics, Perinatology, and Child Health

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10.1007/s13312-019-1682-4

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title = "Computer-aided Facial Analysis in Diagnosing Dysmorphic Syndromes in Indian Children",

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.",

author = "Narayanan, \{Dhanya Lakshmi\} and Prajnya Ranganath and Shagun Aggarwal and Ashwin Dalal and Phadke, \{Shubha R.\} and Kaushik Mandal",

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AU - Narayanan, Dhanya Lakshmi

AU - Ranganath, Prajnya

AU - Aggarwal, Shagun

AU - Dalal, Ashwin

AU - Phadke, Shubha R.

AU - Mandal, Kaushik

PY - 2019/12/1

Y1 - 2019/12/1

N2 - 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.

AB - 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.

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Computer-aided Facial Analysis in Diagnosing Dysmorphic Syndromes in Indian Children

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