Spondyloepiphyseal Dysplasia Congenita Associated with Conductive Hearing Loss

Author:

Dahiya Ravinder1,Cleveland Sandra2,Megerian Cliff A.1

Affiliation:

1. Department of Otolaryngology, University of Massachusetts Medical Center, Worcester.

2. Department of Audiology, University of Massachusetts Medical Center, Worcester.

Abstract

Spondyloepiphyseal dysplasia is a disorder characterized by abnormalities of growth. Previous studies of this disorder have identified a significant incidence of associated hearing loss. Hearing loss has been reported to occur in 25 to 30% of affected patients. To date, all reports of associated hearing loss have indicated the presence of a sensorineural component. In this article, we report the case of a child who was diagnosed with spondyloepiphyseal dysplasia congenita and who was found to have a significant conductive hearing loss with a Carhart's notch, indicating the likely presence of stapes footplate fixation. We also review the diagnosis of this condition and the literature associated with hearing loss as it occurs with this disorder.

Publisher

SAGE Publications

Subject

Otorhinolaryngology

Reference12 articles.

1. Dysplasia spondyloepiphysaria congenita and related generalized skeletal dysplasias among children with severe visual handicaps.

2. HarrisNH, BirchR. Postgraduate Textbook of Clinical Orthopaedics. Cambridge, Mass.Blackwell Science Press, 1995.

3. ResnickD, NiwayamaG. Diagnosis of Bone and Joint Disorders. Vol. 6. Philadelphia: W.B. Saunders, 1988.

4. Two clinical variants of spondylo-epiphysial dysplasia congenita

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