Hearing loss in Stickler's syndrome: a family case study.
Stickler's syndrome is an autosomal dominant hereditary condition that presents with pathognomonic facial features, dysplasia, myopia and auditory deficits. This paper describes the auditory history of a family with Stickler's syndrome. Given the expressive variability, a complete audiologic and otologic evaluation is encouraged when Stickler's syndrome is suspected.
Jacobson
J
J
Department of Otolaryngology, Geisinger Medical Center, Danville, Pennsylvania 17822.
Jacobson
C
C
Gibson
W
W
D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics*; D000328:Adult; D002675:Child, Preschool; D003394:Craniofacial Dysostosis / Q000175:diagnosis / Q000235:genetics*; D005260:Female; D006319:Hearing Loss, Sensorineural / Q000151:congenital / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D007223:Infant; D008297:Male; D009216:Myopia / Q000151:congenital / Q000175:diagnosis / Q000235:genetics*; D013577:Syndrome