title: Cephalometric findings in facioscapulohumeral muscular dystrophy patients with obstructive sleep apneas.
abstract: OBJECTIVE
  The purposes of the study are: (1) to establish if cephalometry and upper airway examination may provide tools for detecting facioscapulohumeral (FSHD) patients at risk for obstructive sleep apnea syndrome (OSAS); and (2) to correlate cephalometry and otorhinolaryngologic evaluation with clinical and polysomnographic features of FHSD patients with OSAS.
  
  
  METHODS
  Patients were 13 adults affected by genetically confirmed FSHD and OSAS, 11 men, with mean age 47.1 ± 12.8 years (range, 33-72 years). All underwent clinical evaluation, Manual Muscle Test, Clinical Severity Scale for FSHD, Epworth Sleepiness Scale, polysomnography, otorhinolaryngologic evaluation, and cephalometry.
  
  
  RESULTS
  Cephalometric evidence of pharyngeal narrowing [posterior airways space (PAS) < 10 mm] was present in only one patient. The mandibular planus and hyoid (MP-H) distance ranged from 6.5 to 33.1 mm (mean, 17.5 ± 7.8 mm). The mean length of soft palate (PNS-P) was 31.9 ± 4.8 mm (range, 22.2 to 39.7 mm). No patient presented an ANB angle > 7°. There was no significant correlation between cephalometric measures, clinical scores, and PSG indexes. PAS and MP-H were not related to the severity of the disease.
  
  
  CONCLUSIONS
  Upper airway morphological evaluation is of poor utility in the clinical assessment of FSHD patients and do not allow to predict the occurrence of sleep-related upper airway obstruction. This suggests that the pathogenesis of OSAS in FSHD is dependent on the muscular impairment, rather than to the anatomy of upper airways.
authors.affiliation: Department of Neurosciences, Catholic University, Rome, Italy. dellamarca@rm.unicatt.it
authors.forename: Giacomo
authors.initials: G
authors.lastname: Della Marca
authors.forename: Francesca
authors.initials: F
authors.lastname: Pantanali
authors.forename: Roberto
authors.initials: R
authors.lastname: Frusciante
authors.forename: Emanuele
authors.initials: E
authors.lastname: Scarano
authors.forename: Alessandro
authors.initials: A
authors.lastname: Cianfoni
authors.forename: Lea
authors.initials: L
authors.lastname: Calò
authors.forename: Serena
authors.initials: S
authors.lastname: Dittoni
authors.forename: Catello
authors.initials: C
authors.lastname: Vollono
authors.forename: Anna
authors.initials: A
authors.lastname: Losurdo
authors.forename: Elisa
authors.initials: E
authors.lastname: Testani
authors.forename: Salvatore
authors.initials: S
authors.lastname: Colicchio
authors.forename: Valentina
authors.initials: V
authors.lastname: Gnoni
authors.forename: Elisabetta
authors.initials: E
authors.lastname: Iannaccone
authors.forename: Benedetto
authors.initials: B
authors.lastname: Farina
authors.forename: Tommaso
authors.initials: T
authors.lastname: Pirronti
authors.forename: Pietro A
authors.initials: PA
authors.lastname: Tonali
authors.forename: Enzo
authors.initials: E
authors.lastname: Ricci
mesh_terms: D000328:Adult; D000368:Aged; D015992:Body Mass Index; D002508:Cephalometry / Q000706:statistics & numerical data*; D005260:Female; D006801:Humans; D007558:Italy; D008297:Male; D008875:Middle Aged; D020391:Muscular Dystrophy, Facioscapulohumeral / Q000175:diagnosis* / Q000453:epidemiology; D017286:Polysomnography; D012016:Reference Values; D012307:Risk Factors; D013223:Statistics as Topic