title: Otologic and audiologic manifestations of Hutchinson-Gilford progeria syndrome.
abstract: OBJECTIVE
  To define the audiologic and otologic phenotype of Hutchinson-Gilford progeria syndrome (HGPS).
  
  
  METHODS
  Prospective case series.
  
  
  METHODS
  Fifteen patients with HGPS were enrolled in a prospective natural history study; 14 were evaluated in the neurotology clinic, and 11 received audiologic evaluations. The physical exam and audiologic findings of these patients were reviewed to define an otologic and audiologic phenotype for HGPS in the largest series of subjects in the literature.
  
  
  RESULTS
  All patients were noted to have stiff auricular cartilages, small or absent lobules, and hypoplasia of the lateral soft-tissue portion of the external ear canal leading to a shortened canal. Ten of 14 patients (71%) had dry cerumen impaction, and four of 14 patients (29%) reported a history of recurrent otitis media. Nineteen of 22 ears (86.4%) demonstrated low-frequency conductive hearing loss in the 250 to 500 Hz range. Sixteen of 22 ears (73%) had type A tympanograms; three of 22 ears (14%) displayed bimodal or "W" peaked tympanograms; two of 22 ears (9%) had type B tympanograms; one of 22 ears (4%) had a type C tympanogram. Nine of 10 patients had distortion product otoacoustic emissions consistent with normal peripheral hearing sensitivity.
  
  
  CONCLUSIONS
  HGPS is caused by a mutation in the LMNA gene resulting in the production of an abnormal nuclear protein; this in turn affects nuclear structure and function. Patients with HGPS have characteristic otologic features due to cartilaginous and subcutaneous tissue abnormalities and typically demonstrate low-frequency conductive hearing loss despite largely normal tympanometry. It is important to be aware of these conditions in managing these patients.
authors: Georgetown University Hospital Department of Otolaryngology-Head and Neck Surgery, Washington, DC, USA.
authors: Elizabeth
authors: E
authors: Guardiani
authors: Christopher
authors: C
authors: Zalewski
authors: Carmen
authors: C
authors: Brewer
authors: Melissa
authors: M
authors: Merideth
authors: Wendy
authors: W
authors: Introne
authors: Ann C M
authors: AC
authors: Smith
authors: Leslie
authors: L
authors: Gordon
authors: William
authors: W
authors: Gahl
authors: H Jeffrey
authors: HJ
authors: Kim
mesh_terms: D000158:Acoustic Impedance Tests / Q000379:methods*; D001301:Audiometry, Pure-Tone / Q000379:methods; D002648:Child; D002675:Child, Preschool; D015331:Cohort Studies; D005260:Female; D005500:Follow-Up Studies; D006314:Hearing Loss, Conductive / Q000175:diagnosis* / Q000453:epidemiology; D006801:Humans; D015994:Incidence; D007223:Infant; D008297:Male; D008991:Monitoring, Physiologic; D017084:Otoacoustic Emissions, Spontaneous / Q000502:physiology*; D011371:Progeria / Q000175:diagnosis*; D011446:Prospective Studies; D018570:Risk Assessment