The facial morphology in Down syndrome: A 3D comparison of patients with and without obstructive sleep apnea. Issue 11 (17th August 2017)

• Record Type: Journal Article
• Authors: Jayaratne, Yasas S. N.; Elsharkawi, Ibrahim; Macklin, Eric A.; Voelz, Lauren; Weintraub, Gil; Rosen, Dennis; Skotko, Brian G.
• Is Part Of: American journal of medical genetics. Volume 173:Issue 11(2017)
• Page Start: 3013
• Page End: 3021
• Publication Date: 2017-08-17
• Subjects: 3D imaging -- anthropometry -- Down syndrome -- obstructive sleep apnea -- polysomnography -- trisomy 21; Medical genetics -- Periodicals; 616.14205
• DOI: 10.1002/ajmg.a.38399
• Languages: English
• ISSNs: 1552-4825

Abstract

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.