Klippel-Feil syndrome and associated ear anomalies.
OBJECTIVE
Klippel-Feil syndrome (KFS) is a congenital segmentation anomaly of the cervical vertebrae that manifests as short neck, low hair line, and limited neck mobility. Various systemic malformations may also accompany the syndrome including wide variety of otopathologies affecting all 3 compartments of the ear (external, middle, and inner ear) as well as internal acoustic canal and vestibular aqueduct. We aimed to investigate these involvements and their clinical correlates in a group of patients with KFS.


RESULTS
We present 20 KFS cases, of which 12 (% 60) displayed most of the reported ear abnormalities such as microtia, external ear canal stenosis, chronic ear inflammations and their sequels, anomalies of the tympanic cavity and ossicles, inner ear dysplasies, deformed internal acoustic canal, and wide vestibular aqueduct, which are demonstrated using the methods of otoscopy, audiologic testing, and temporal bone computed tomography.


CONCLUSIONS
This series represents one of the highest reported rate of ear involvement in KFS. We found no correlation between the identified ear pathologies and the skeletal and extraskeletal malformations. The genetic nature of the syndrome was supported by the existence of affected family members in 4 (20%) of the cases.
Yildirim
Nadir
N
Medical Faculty Otolaryngology, Yuzuncu Yil University, Van, Turkey. nadir_yildirim@yahoo.com
Arslanoğlu
Atilla
A
Mahiroğullari
Mahir
M
Sahan
Murat
M
Ozkan
Hüseyin
H
D000328:Adult; D017677:Age Distribution; D001299:Audiometry / Q000379:methods; D015897:Comorbidity; D000013:Congenital Abnormalities / Q000175:diagnosis / Q000453:epidemiology*; D004423:Ear / Q000002:abnormalities*; D006314:Hearing Loss, Conductive / Q000151:congenital / Q000175:diagnosis / Q000453:epidemiology*; D006801:Humans; D015994:Incidence; D007714:Klippel-Feil Syndrome / Q000175:diagnosis / Q000453:epidemiology*; D008297:Male; D008403:Mass Screening; D038781:Otoscopy / Q000379:methods; D018570:Risk Assessment; D012720:Severity of Illness Index; D014057:Tomography, X-Ray Computed / Q000379:methods; D014421:Turkey / Q000453:epidemiology