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Genetics Research International
Volume 2011, Article ID 983942, 6 pages
Review Article

Hearing Loss in Osteogenesis Imperfecta: Characteristics and Treatment Considerations

1Department of Audiology, Kennedy Krieger Institute, Baltimore, MD 21205, USA
2Department of Physical Medicine and Rehabilitation, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA
3Department of Otology and Laryngology, Harvard Medical School, Boston, MA 02115, USA
4Bone and Osteogenesis Imperfecta Department, Kennedy Krieger Institute, Baltimore, MD 21205, USA

Received 2 June 2011; Accepted 4 October 2011

Academic Editor: Ignacio Del Castillo

Copyright © 2011 Joseph P. Pillion et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.


Osteogenesis imperfecta (OI) is the most common heritable disorder of connective tissue. It is associated with fractures following relatively minor injury, blue sclerae, dentinogenesis imperfecta, increased joint mobility, short stature, and hearing loss. Structures in the otic capsule and inner ear share in the histologic features common to other skeletal tissues. OI is due to mutations involving several genes, the most commonly involved are the COL1A1 or COL1A2 genes which are responsible for the synthesis of the proalpha-1 and proalpha-2 polypeptide chains that form the type I collagen triple helix. A genotype/phenotype relationship to hearing loss has not been established in OI. Hearing loss is commonly found in OI with prevalence rates ranging from 50 to 92% in some studies. Hearing loss in OI may be conductive, mixed, or sensorineural and is more common by the second or third decade. Treatment options such as hearing aids, stapes surgery, and cochlear implants are discussed.