Audiological findings of patients with achondroplasia

Abstract

Skeletal dysplasias are a heterogeneous group of disorders which result in short stature and skeletal deformities. To date there are over 70 distinct recognizable conditions [15]. With the exception of two recent studies on patients with osteogenesis imperfecta [2,14] and Morquio syndrome [ 131, audiological evaluation on skeletal dysplasia patients have not been systematically obtained. In most cases data consist of casual observations, which were done on small numbers of patients where types of hearing loss and ranges or variability in hearing levels were not differentiated. This is particularly evident in discussion of audiologic status of patients with achondroplasia. Achondroplasia is an autosomal dominant skeletal dysplasia characterized by short stature, short limbs, and a variety of craniofacial abnormalities including a shortened cranial base, frontal bossing of the skull, and numerous dentofacial abnormalities. Gorlin et al. [ 6 ] and Cohen [3] reported a high incidence of otitis media in patient with achondroplasia. Hall 171, in a survey of 150 achondroplasts over the age of 18 years found that 75% reported having had ear infections and 11% reported that they ended up with a significant hearing loss. Glass et al. [5] in a study of 88 achondroplasts, found that 97% of the subjects reported having a history of ear infection and/or hearing loss. On pure-tone audiometric screening, 72% of the achondroplasts were found to have a hearing loss of 22 dB (ANSI1968) or greater. Based on these data the following questions arose. (1) Do achondroplasts have a higher incidence of hearing loss than other skeletal dysplasias? (2) What type of hearing loss is characteristic in achondroplasia? (3) What are