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.
Department of Medical Genetics, Nizam's Institute of Medical Sciences, Hyderabad, Andhra Pradesh, India.
Indian Pediatr. 2019 Dec 15;56(12):1017-1019.
To assess the utility of computer-aided facial analysis in identifying dysmorphic syndromes in Indian children.
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.
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.
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.
评估计算机辅助面部分析在识别印度儿童发育畸形综合征中的效用。
本研究纳入了 51 名具有明确分子或细胞遗传学诊断且具有可识别面部畸形的患者，并将其面部照片上传至 Face2Gene 软件。将软件提供的结果与分子诊断进行比较。
在 51 名患者中，该软件正确预测了 37 名患者的诊断（72.5%）；在前十位建议中，有 26 个（70.2%）为第一个建议。在 14 名患者中，软件未提示正确诊断。
计算机辅助面部分析是一种可以辅助诊断印度儿童遗传综合征的方法。随着越来越多的临床医生开始使用该软件，预计其准确性将会提高。
