Hearing loss in osteogenesis imperfecta: characteristics and treatment considerations.

[dentinogenesis imperfecta]

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 COL 1 A 1 or COL 1 A 2 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 .

Diseases
Validation

Diseases presenting "hearing loss" symptom

22q11.2 deletion syndrome

achondroplasia

adrenomyeloneuropathy

alexander disease

benign recurrent intrahepatic cholestasis

canavan disease

cohen syndrome

congenital toxoplasmosis

dentinogenesis imperfecta

fabry disease

familial mediterranean fever

heparin-induced thrombocytopenia

hirschsprung disease

holt-oram syndrome

homocystinuria without methylmalonic aciduria

hydrocephalus with stenosis of the aqueduct of sylvius

kabuki syndrome

kallmann syndrome

neonatal adrenoleukodystrophy

pendred syndrome

von hippel-lindau disease

wolf-hirschhorn syndrome

This symptom has already been validated