4.2 Article

Objective evaluation of facial features in Congolese newborns by facial measurements. The need for population-specific measurements

Journal

AMERICAN JOURNAL OF MEDICAL GENETICS PART A
Volume 188, Issue 10, Pages 3063-3070

Publisher

WILEY
DOI: 10.1002/ajmg.a.62958

Keywords

Congolese newborns; facial dysmorphism; measurable facial characteristic

Funding

  1. Chair for Human Genetics in DR Congo, KU Leuven
  2. Marc Vervenne Fund Doctoral Scholarship, KU Leuven
  3. National Institutes of Health (NIH) National Institute of Mental Health of the USA [5U01MH115483]

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The evaluation of dysmorphism in newborns is subjective due to the difficulty of measuring continuous traits. Population-specific reference ranges are needed. Facial measurements were taken on Congolese newborns, and a correction factor was introduced to allow interchangeability between measurement techniques. Certain facial traits were significantly different in Congolese newborns compared to European references. There was poor agreement between clinical evaluation and measured features, suggesting that the measured interpupillary distance did not accurately reflect the clinical evaluation of wide-spaced eyes.
The evaluation of dysmorphism is often subjective because many continuous traits are not easily measured or lack normal values. Because many common morphologic profiles vary between populations, population-specific reference ranges of relevant traits are needed. We aim to evaluate the objective assessment of facial dysmorphism in 553 Congolese newborns based on facial measurements. Measurements taken with a ruler were on average larger compared to those with a caliper, but the bias did not depend on the size of the measurement. We therefore introduced a correction factor that allows to use both techniques for facial measurements interchangeably in future studies. The outer canthal distance, palpebral fissure length, and mouth width were significantly larger in Congolese newborns (respectively mean 6.59 [SD 0.48]; mean 2.20 [SD 0.24]; mean 2.78 [SD 0.26]) when compared to references based on European newborns (respectively mean 3.59 [SD 1.76]; mean 4.20 [SD 2.26]; mean 0.47 [SD 1.21]), while the rest of measurements were significantly smaller. The interpupillary distance (IPD) calculated from inner canthal distance and outer canthal distance was not significantly different. We observed a poor agreement between clinical evaluation and measured features (kappa of 0.432). Clinicians were more likely to recognize a face as having wide-spaced eyes when it had been recognized as such during the clinical examination, more than if the child had a high interpupillary distance. This suggests that the measured IPD is not precisely reflecting what is clinically evaluated as wide-spaced eyes.

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