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

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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.

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Funding

Funding: None

Author information

Authors and Affiliations

  1. Department of Medical Genetics, Nizam’s Institute of Medical Sciences, Hyderabad, Andhra Pradesh, India

    Dhanya Lakshmi Narayanan, Prajnya Ranganath & Shagun Aggarwal

  2. Department of Diagnostics, Centre and DNA Fingerprinting and Diagnosis, Hyderabad, Andhra Pradesh, India

    Ashwin Dalal

  3. Sanjay Gandhi Post Graduate Institute of Medical Sciences, Lucknow, Uttar Pradesh, India

    Shubha R. Phadke & Kaushik Mandal

Authors
  1. Dhanya Lakshmi Narayanan
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  2. Prajnya Ranganath
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  3. Shagun Aggarwal
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  4. Ashwin Dalal
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  5. Shubha R. Phadke
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  6. Kaushik Mandal
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Corresponding author

Correspondence to Dhanya Lakshmi Narayanan.

Ethics declarations

Competing interests: None stated.

Consent for publication of photographs has been obtained from parents of included children.

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Cite this article

Narayanan, D.L., Ranganath, P., Aggarwal, S. et al. Computer-aided Facial Analysis in Diagnosing Dysmorphic Syndromes in Indian Children. Indian Pediatr 56, 1017–1019 (2019). https://doi.org/10.1007/s13312-019-1682-4

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  • DOI: https://doi.org/10.1007/s13312-019-1682-4

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