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Hearing loss in skeletal dysplasia patients.

A hearing screening program was performed to determine the prevalence of hearing loss and abnormal tympanometry in individuals with short-stature skeletal dysplasias attending a national meeting. Behavioral audiometry, otoacoustic emission testing, and tympanometry were used to assess hearing. Failed hearing screen was defined as hearing ≥ 35 dB at one or more frequencies or by "fail" on otoacoustic emissions. One hundred ten of 112 subjects completed the screening. 58 (51.8%) were children. Seventy-three (65.2%) had achondroplasia, 34 (30.4%) had one of 11 other diagnoses, and 5(4.4%) were undiagnosed. 25.8% of children failed hearing screening in one or both ears, while 46.3% of adults failed in one or both ears. 55.1% of adults and 25.0% of children with achondroplasia failed screening. Abnormal hearing was also found in the some patients with spondyloepiphyseal dysplasia congenital (SEDC; 75%), diastrophic dysplasia (66%), and Morquio (66%). Hearing was normal in those with hypochondroplasia, pseudoachondroplasia, and microcephalic osteodysplastic primordial dwarfism. Tympanometry was abnormal in at least one ear in 53.3% of children and 38.5% of adults. Abnormal tympanometry in the absence of functioning tympanostomy tubes was associated with 9.5 greater odds of hearing loss in children and 2.8 greater odds of hearing loss in the total cohort. Only 3 (2.7%) respondents reported the use of hearing aids. Hearing loss and middle ear disease are common in both children and adults with skeletal dysplasia. Adults were more likely to fail hearing screening than children. Abnormal tympanometry is associated with hearing loss. Hearing screening with appropriate intervention is recommended for these patients.

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