Obstructive sleep apnoea in pycnodysostosis: A three-dimensional upper airway analysis. 2022

Nikolaos Ferlias, and Hans Gjørup, and Mia Aagaard Doherty, and Annette Haagerup, and Thomas Klit Pedersen
Section of Orthodontics, Department of Dentistry and Oral Health, Aarhus University, Aarhus, Denmark.

OBJECTIVE To assess the upper airway (UA) morphology in patients with pycnodysostosis with a 3D analysis, compare results with normative data and investigate the correlation of the total volume (TV) with other UA morphology variables. METHODS Cone beam computed tomography (CBCT) images of eight Danish patients with pycnodysostosis (4 males and 4 females with a mean age of 31.8 years, SD: 16.3 years) were analyzed using Mimics® (Materialise® ) and compared with a sex- and age-matched control group (6 males and 8 females with a mean age of 33.6 years, SD: 18.6 years). RESULTS The distance from the tip of the epiglottis (E) to the Frankfurt horizontal plane (Fp) was significantly shorter in the pycnodysostosis group (P < .042). Regarding the cross-sectional measurements, at the 'maximum constriction' (P < .005), the 'upper airway limit' (P < .001) and the 'lower airway limit' (P < .035) cross-sections were significantly smaller in the pycnodysostosis group. The volumes 'nasopharynx' (P < .002) and 'total airway' (TV) (P < .01) were also significantly smaller. CONCLUSIONS Patients with pycnodysostosis have a reduced total airway as well as nasopharyngeal volume compared with matched controls. Additionally, they have a reduced cross-sectional area in the upper and lower borders of the UA, and the area of maximum constriction is also reduced. These factors might explain the high prevalence of obstructive sleep apnoea in pycnodysostosis. Total airway is positively correlated with total length and cross-sections at all levels including the maximum constriction area as well as the anteroposterior dimension at the upper and lower airway borders.

UI MeSH Term Description Entries
D008297 Male Males
D009305 Nasopharynx The top portion of the pharynx situated posterior to the nose and superior to the SOFT PALATE. The nasopharynx is the posterior extension of the nasal cavities and has a respiratory function. Rhinopharynx,Choanae,Nasopharynges,Nasopharynxes,Rhinopharynges,Rhinopharynxes
D010614 Pharynx A funnel-shaped fibromuscular tube that conducts food to the ESOPHAGUS, and air to the LARYNX and LUNGS. It is located posterior to the NASAL CAVITY; ORAL CAVITY; and LARYNX, and extends from the SKULL BASE to the inferior border of the CRICOID CARTILAGE anteriorly and to the inferior border of the C6 vertebra posteriorly. It is divided into the NASOPHARYNX; OROPHARYNX; and HYPOPHARYNX (laryngopharynx). Throat,Pharynxs,Throats
D005260 Female Females
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000293 Adolescent A person 13 to 18 years of age. Adolescence,Youth,Adolescents,Adolescents, Female,Adolescents, Male,Teenagers,Teens,Adolescent, Female,Adolescent, Male,Female Adolescent,Female Adolescents,Male Adolescent,Male Adolescents,Teen,Teenager,Youths
D000328 Adult A person having attained full growth or maturity. Adults are of 19 through 44 years of age. For a person between 19 and 24 years of age, YOUNG ADULT is available. Adults
D054893 Cone-Beam Computed Tomography Computed tomography modalities which use a cone or pyramid-shaped beam of radiation. CAT Scan, Cone-Beam,Cone-Beam CT,Tomography, Cone-Beam Computed,Tomography, Volume Computed,CT Scan, Cone-Beam,Cone-Beam Computer-Assisted Tomography,Cone-Beam Computerized Tomography,Volume CT,Volume Computed Tomography,Volumetric CT,Volumetric Computed Tomography,CAT Scan, Cone Beam,CAT Scans, Cone-Beam,CT Scan, Cone Beam,CT Scans, Cone-Beam,CT, Cone-Beam,CT, Volume,CT, Volumetric,Computed Tomography, Cone-Beam,Computed Tomography, Volume,Computed Tomography, Volumetric,Computer-Assisted Tomography, Cone-Beam,Computerized Tomography, Cone-Beam,Cone Beam CT,Cone Beam Computed Tomography,Cone Beam Computer Assisted Tomography,Cone Beam Computerized Tomography,Cone-Beam CAT Scan,Cone-Beam CAT Scans,Cone-Beam CT Scan,Cone-Beam CT Scans,Scan, Cone-Beam CAT,Scan, Cone-Beam CT,Scans, Cone-Beam CAT,Scans, Cone-Beam CT,Tomography, Cone Beam Computed,Tomography, Cone-Beam Computer-Assisted,Tomography, Cone-Beam Computerized,Tomography, Volumetric Computed
D058631 Pycnodysostosis Rare autosomal recessive syndrome characterized by delayed closing of CRANIAL SUTURES, short stature, ACRO-OSTEOLYSIS of distal phalanges, dental and MAXILLOFACIAL ABNORMALITIES and an increase in bone density that results in frequent BONE FRACTURES. It is associated with BONE RESORPTION defect due to mutations in the lysosomal cysteine protease CATHEPSIN K. Pyknodysostosis,Pycnodysostoses,Pyknodysostoses
D020181 Sleep Apnea, Obstructive A disorder characterized by recurrent apneas during sleep despite persistent respiratory efforts. It is due to upper airway obstruction. The respiratory pauses may induce HYPERCAPNIA or HYPOXIA. Cardiac arrhythmias and elevation of systemic and pulmonary arterial pressures may occur. Frequent partial arousals occur throughout sleep, resulting in relative SLEEP DEPRIVATION and daytime tiredness. Associated conditions include OBESITY; ACROMEGALY; MYXEDEMA; micrognathia; MYOTONIC DYSTROPHY; adenotonsilar dystrophy; and NEUROMUSCULAR DISEASES. (From Adams et al., Principles of Neurology, 6th ed, p395) Obstructive Sleep Apnea,Upper Airway Resistance Sleep Apnea Syndrome,Apnea, Obstructive Sleep,OSAHS,Obstructive Sleep Apnea Syndrome,Sleep Apnea Hypopnea Syndrome,Sleep Apnea Syndrome, Obstructive,Syndrome, Obstructive Sleep Apnea,Syndrome, Sleep Apnea, Obstructive,Syndrome, Upper Airway Resistance, Sleep Apnea,Apneas, Obstructive Sleep,Obstructive Sleep Apneas,Sleep Apneas, Obstructive

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