Cephalometric analysis of pharyngeal airway space dimensions in Turner syndrome
Abstract
Turner syndrome (TS) that is due to a total or partial lack of an X chromosome affects about 1 in 2000 girls. The syndrome is characterized by short stature and gonadal dysgenesis. Its documented craniofacial features include retrognathic jaws, a short mandible, and a large cranial base angle. Our aim was to find out whether the syndrome also has an effect on the pharyngeal airway space. We retrospectively analysed lateral cephalograms of 35 TS subjects whose age ranged from 6.5 to 21 years and of 35 healthy female controls matched for age. On those, we did 7 linear and 10 angular cephalometric measurements and 9 pharyngeal measurements. Differences between the subjects with TS and their controls were assessed by paired two-tailed T-test. In the girls with TS, both the maxilla and the mandible were more retrognathic (SNA, P = 0.015 and SNB, P < 0.001), the mandible was shorter (TM-Pgn, P = 0.016), and the cranial base angle was larger (SNBa, P = 0.025) than in the controls, confirming the results of earlier studies. Notably, all six pharyngeal airway measurements were smaller in girls with TS. Two of them, PNS-ad2 and PAS, were statistically significantly smaller (P = 0.019 and P = 0.012, respectively). Thus, a narrow pharynx, either as a primary finding or as a consequence of the maxillo-mandibular retrognathism, further delineates the phenotype. This may imply an elevated risk of sleep apnoea in females with TS.
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These anatomic differences can result in a smaller pharyngeal airway space, predisposing individuals with TS to upper airway resistance, sleep disordered breathing, and obstructive sleep apnea.
“In addition to contributing to feeding problems in infancy, these anatomic differences can result in a smaller pharyngeal airway space, predisposing individuals with TS to upper airway resistance, sleep disordered breathing, and obstructive sleep apnea.669”
From Clinical practice guidelines for the care of girls and women with Turner syndrome. (2024) · cites this paper as [669]
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Clinical practice guidelines for the care of girls and women with Turner syndrome.
Gravholt, C. H., Andersen, N. H., Christin-Maitre, S., Davis, S. M., Duijnhouwer, A., Gawlik, A., Maciel-Guerra, A. T., Gutmark-Little, I., Fleischer, K., Hong, D., et al. (2024) · European Journal of Endocrinology · doi:10.1093/ejendo/lvae050 · Cited by 224 · see citing works
High prevalence of obstructive sleep-disordered breathing in pediatric patients with Turner syndrome
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- Authors
- Eklund, M., Kotilainen, J., Evalahti, M., & Waltimo-Siren, J.
- Affiliations
- University of Helsinki (FI)
- ORCID
- Eklund, M.
- Venue
- The European Journal of Orthodontics
- Publisher
- Oxford University Press (OUP)
- Published
- 2012-01-24
- Volume
- 34
- Issue
- 2
- Pages
- 219-225
- ISSN
- 0141-5387 (ISSN-L)
- 1460-2210
- OpenAlex
- W2145718394
- Cited by
- 17
- References
- 45
- Citations by year
- 2025: 1 · 2024: 3 · 2023: 1 · 2021: 1 · 2020: 2 · 2019: 1 · 2018: 2 · 2016: 1 · 2015: 2 · 2013: 2 · 2012: 1
- FWCI
- 2.25
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- European Journal of Orthodontics (publishedVersion)
- PubMed (publishedVersion)
- Topics
- Health Sciences › Dentistry › Orthodontics › Orthodontics and Dentofacial Orthopedics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Craniofacial Disorders and Treatments
- Keywords
- Turner syndrome, pharyngeal airway space, airway dimensions, craniofacial morphology, maxillary retrognathism, cranial base angle, cephalometric measurements
- MeSH terms
- Adolescent, Cephalometry, Child, Chin, Female, Humans, Hyoid Bone, Incisor, Mandible, Mandibular Condyle, Maxilla, Nasal Bone, Palate, Soft, Pharynx, Retrospective Studies, Risk Factors, Sella Turcica, Turner Syndrome, Case-Control Studies, Skull Base, Sleep Apnea, Obstructive, Young Adult, Abnormal Karyotype, Retrognathia
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