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Detection of Pitt–Hopkins syndrome based on morphological facial features

D’amato, E., Reyes-Aldasoro, C. C. ORCID: 0000-0002-9466-2018, Consiglio, A. , D’amato, G., Faienza, M. F. & Zollino, M. (2021). Detection of Pitt–Hopkins syndrome based on morphological facial features. Applied Sciences, 11(24), article number 12086. doi: 10.3390/app112412086


This work describes a non-invasive, automated software framework to discriminate between individuals with a genetic disorder, Pitt–Hopkins syndrome (PTHS), and healthy individuals through the identification of morphological facial features. The input data consist of frontal facial photographs in which faces are located using histograms of oriented gradients feature descriptors. Pre-processing steps include color normalization and enhancement, scaling down, rotation, and cropping of pictures to produce a series of images of faces with consistent dimensions. Sixty-eight facial landmarks are automatically located on each face through a cascade of regression functions learnt via gradient boosting to estimate the shape from an initial approximation. The intensities of a sparse set of pixels indexed relative to this initial estimate are used to determine the landmarks. A set of carefully selected geometric features, for example, the relative width of the mouth or angle of the nose, is extracted from the landmarks. The features are used to investigate the statistical differences between the two populations of PTHS and healthy controls. The methodology was tested on 71 individuals with PTHS and 55 healthy controls. The software was able to classify individuals with an accuracy rate of 91%, while pediatricians achieved a recognition rate of 74%. Two geometric features related to the nose and mouth showed significant statistical difference between the two populations.

Publication Type: Article
Additional Information: Copyright: © 2021 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (
Publisher Keywords: Pitt–Hopkins syndrome; morphological face analysis; facial landmarks
Subjects: Q Science > QA Mathematics > QA75 Electronic computers. Computer science
R Medicine > RA Public aspects of medicine
Departments: School of Science & Technology > Computer Science
SWORD Depositor:
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