Hearing loss in osteogenesis imperfecta: characteristics and treatment considerations.

Genetics Research International
Joseph P PillionJay Shapiro

Abstract

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.

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Citations

Feb 15, 2013·Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research·Jay R ShapiroBrendan H Lee
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Nov 21, 2021·European Archives of Paediatric Dentistry : Official Journal of the European Academy of Paediatric Dentistry·J M Cachia MintoffS Parekh

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Methods Mentioned

BETA
X-ray
cochlear implants

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