title: Klippel-Feil syndrome and associated ear deformities.
abstract: The Klippel-Feil syndrome is characterized by a short, thick neck with restricted head mobility and a low occipital hairline. The head appears to rest directly on the thorax and the trapezius muscles flare out on either side of the neck, producing a pterygium-like effect. Cervical roentgenograms demonstrate fusion of some or even all of the vertebral bodies into bony blocks. Ear deformities occur in approximately one-third of the Klippel-Feil patient population. We report five cases of Klippel-Feil syndrome and describe their otologic and roentgenographic features. Although no single characteristic otologic or audiologic problem is identified, a proclivity for major malformations of involved ears is demonstrated. Early audiometric and otologic evaluation is indicated when the diagnosis of Klippel-Feil syndrome is made.
mesh_terms: D000293:Adolescent; D000328:Adult; D001299:Audiometry; D002648:Child; D002675:Child, Preschool; D003051:Cochlea / Q000002:abnormalities; D007758:Ear, Inner / Q000002:abnormalities* / Q000000981:diagnostic imaging; D005260:Female; D006319:Hearing Loss, Sensorineural / Q000175:diagnosis / Q000209:etiology; D006801:Humans; D007714:Klippel-Feil Syndrome / Q000150:complications*; D008297:Male; D014056:Tomography, X-Ray; D014722:Vestibule, Labyrinth / Q000002:abnormalities