The facial morphology in Down syndrome: A 3D comparison of patients with and without obstructive sleep apnea

Abstract

Obstructive sleep apnea (OSA) occurs at a high prevalence in patients with Down syndrome (DS). A polysomnogram, which is often cumbersome and challenging, remains the gold standard method of diagnosing OSA. OSA in patients with DS is often attributed to skeletal and soft-tissue structural alterations that are characteristic of the DS phenotype; as such, we hypothesized that assessing anthropometric facial measurements may be predictive of OSA in patients with DS. We used the 3dMDface sterophotography system to capture and create 3D facial images, and we subsequently identified facial landmarks using a single, experienced investigator and utilizing proprietary software to calculate inter-landmark distances and angles. We compared our findings with similar data for neurotypically developing participants. We further compared the findings in participants with DS with and without OSA. Participants with DS had maxillomandibular hypoplasia with smaller ear, nose, and eye measurements compared to neurotypically developing peers. We found no statistically significant differences in 3D photogrammetric measurements between participants with DS with or without OSA.

Age‐related craniofacial differences based on spatio‐temporal face image atlases

“…This region captures essentially the global shape of the faces, showing distinctive facial length (C: upper facial height; D: lower facial height) and width (A: cranial base width) between the DS and control sample groups analysed. These are actually common craniofacial aspects found in the clinically related literature [9,10,12,15,33], because faces of subjects with DS are expected to be narrower and shorter than the faces of control subjects.…”

“…Our 2D imaging results are related with the DS craniofacial differences in the following frontal anthropometric regions: face, nose, and mouth and lips. A number of recent studies [10,11,[13][14][15] have addressed DS morphological craniofacial changes in such regions using digital imaging technology as well. However, our work is the first to propose and implement a computational framework that discloses the developmental changes of these differences, at 1-year age intervals, continuously across the age range from 1 to 18 years old, providing insights about these underlying craniofacial features in DS owing to age progression.…”

“…Additionally, our experimental results have showed that the mouth and lips is the least statistically different region considered here, because each one of its four metrics has been discriminant only in 5 out of 18 occurrences possible given the 1-year period of interval. According to the related literature [10,12,15,33], DS faces might exhibit some degree of dysmorphology in this region, essentially a general decreased mouth width with prominent lips [12]. We have found statistical differences on the labial fissure length (I), which is an equivalent metric to mouth width, at t(I) = {1, 9, 10, 13, 15}, and differences on the philtrum length (J), upper lip height (K) and lower lip height (L) at, respectively, t(J) = {5, 6, 7, 8, 11}, t(K) = {2, 3, 4, 7, 12}, and t(L) = {2, 3, 4, 5, 12}.…”

“…However, owing to the lack of age progression information, the computational analysis of such facial morphology strategies has provided a limited understanding of craniofacial development. In other words, most of these works have been based on spatial models of the face adjusted for the counter effects of age [5,6,15] or described as temporal exclusive population groups [2, 4, 7, 9-11, 13, 14], either consisting of only young children, adolescents, or adults' samples.…”

“…In order to contribute, particularly, to the growing body of recent imaging literature conveying craniofacial abnormalities in genetic disorders [11][12][13][14][15], we have focused our attention here on the Down Syndrome (DS) genetic disorder. DS is the most well-known and common chromosomal disorder in humans, caused by an extra copy of chromosome 21.…”