title: 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.
authors.affiliation: Department of Orthodontics, Institute of Dentistry, University of Helsinki, Finland. mikaela.eklund@helsinki.fi
authors.forename: Mikaela
authors.initials: M
authors.lastname: Eklund
authors.forename: Johanna
authors.initials: J
authors.lastname: Kotilainen
authors.forename: Marjut
authors.initials: M
authors.lastname: Evälahti
authors.forename: Janna
authors.initials: J
authors.lastname: Waltimo-Sirén
mesh_terms: D059786:Abnormal Karyotype; D000293:Adolescent; D016022:Case-Control Studies; D002508:Cephalometry / Q000379:methods*; D002648:Child; D002680:Chin / Q000473:pathology; D005260:Female; D006801:Humans; D006928:Hyoid Bone / Q000473:pathology; D007180:Incisor / Q000473:pathology; D008334:Mandible / Q000002:abnormalities; D008335:Mandibular Condyle / Q000473:pathology; D008437:Maxilla / Q000002:abnormalities / Q000473:pathology; D009295:Nasal Bone / Q000473:pathology; D010160:Palate, Soft / Q000473:pathology; D010614:Pharynx / Q000473:pathology*; D063173:Retrognathia / Q000473:pathology; D012189:Retrospective Studies; D012307:Risk Factors; D012658:Sella Turcica / Q000473:pathology; D019291:Skull Base / Q000473:pathology; D020181:Sleep Apnea, Obstructive / Q000209:etiology; D014424:Turner Syndrome / Q000235:genetics / Q000473:pathology*; D055815:Young Adult