Hearing loss in children with osteogenesis imperfecta

  title={Hearing loss in children with osteogenesis imperfecta},
  author={Kaija Kuurila and Reidar A. Grenman and Reijo Johansson and Ilkka Kaitila},
  journal={European Journal of Pediatrics},
Abstract Osteogenesis imperfecta (OI) is a genetic disorder of connective tissue. Progressive hearing loss is one of the principal symptoms of OI, affecting about 50% of adult patients. Hearing loss may also occur in childhood and results in additional disability in education and psychosocial adaptation and aggravates the physical handicap. This can be avoided by appropriate otological and audiological treatment. In a nationwide search, 254 Finnish patients with OI were identified indicating a… 
Hearing Loss in Finnish Adults with Osteogenesis Imperfecta: A Nationwide Survey
Subjective misjudgment of hearing ability supports the need for repeated audiometry in all OI patients.
Audiological findings in osteogenesis imperfecta.
Results indicate that the younger patients with OI were subject to a greater risk of middle ear dysfunction associated with otitis media than is typical for children of comparable age.
Hearing impairment and osteogenesis imperfecta: Literature review.
Hearing Loss in Osteogenesis Imperfecta: Characteristics and Treatment Considerations
Hearing loss in OI may be conductive, mixed, or sensorineural and is more common by the second or third decade and treatment options such as hearing aids, stapes surgery, and cochlear implants are discussed.
Osteogenesis Imperfecta and hearing loss in the paediatric population.
Hearing in bisphosphonate‐treated children sdwith osteogenesis imperfecta: Our experience in thirty six young patients
  • T. Ting, M. Zacharin
  • Medicine, Biology
    Clinical otolaryngology : official journal of ENT-UK ; official journal of Netherlands Society for Oto-Rhino-Laryngology & Cervico-Facial Surgery
  • 2012
The hearing function was evaluated in a cohort of bisphosphonate-treated paediatric osteogenesis imperfecta patients attending the Royal Children’s Hospital, Melbourne.
The two case reports described in this paper show how the hearing loss due to OI can be treated by means of stapedotomy and restapedotomy.
Cochlear implantation in patients with osteogenesis imperfecta
  • S. Streubel, L. Lustig
  • Medicine
    Otolaryngology--head and neck surgery : official journal of American Academy of Otolaryngology-Head and Neck Surgery
  • 2005
[Osteogenesis imperfecta and hearing loss in childhood].


Hearing loss in patients with osteogenesis imperfecta. A clinical and audiological study of 201 patients.
Tympanometry and acoustic reflex measurements suggested that the cause of conductive or mixed hearing loss was stapedial fixation and in a few cases ossicular discontinuity due to aplasia or fracture of the stapedia crura, and findings during stapedectomy in 32 patients confirmed these assumptions.
Hearing and middle ear function in osteogenesis imperfecta.
Middle ear analysis by tympanometry and acoustic reflex analysis indicates that, although some patients with OI have a still middle ear system similar to that seen in otosclerosis, the majority display absent acoustic reflexes and increased compliance of the middle ear with notched tympansograms suggestive of anomalous ossicular articulation.
Hearing Loss (In Nonoperated Ears) in Relation to Age in Osteogenesis Imperfecta Type I
Hearing loss was studied in relation to age in nonoperated ears in a group of 142 subjects with autosomal dominant osteogenesis imperfecta type I, which was compared to that in a random subsample of
Hearing patterns in dominant osteogenesis imperfecta.
Impedance tests suggested that ossicular fixation may be the primary cause of middle ear disorders in patients with mixed or conductive hearing losses and the long-term success of otologic surgery in OI is uncertain.
Osteogenesis imperfecta and associated hearing loss in five kindreds.
The presence of air-bone gaps and absent acoustic reflexes during the first and second decades support the findings of others, indicating that conductive hearing loss is most prevalent in younger individuals with osteogenesis imperfecta.
Osteogenesis imperfecta and hearing loss.
The genetics of OI and the complexity in correlating genetics with clinical classifications is elucidated and the findings reported after middle ear surgery, the results of surgery and comparisons with otosclerosis are reviewed.
A clinical and audiological investigation of osteogenesis imperfecta.
It was found that 31 patients had a hearing loss and Tympanometry was found to give unpredictable results and was unhelpful in assessing middle ear function in these patients.
Osteogenesis imperfecta. A study of 160 family members.
The genetic transmission of this disease as an autosomal dominant was confirmed and it was confirmed that one hundred twenty family members in four generations were at risk of inheriting the gene for osteogenesis imperfecta.
Genetic heterogeneity in osteogenesis imperfecta.
An epidemiological and genetical study of osteogenesis imperfecta (OI) in Victoria, Australia confirmed that there are at least four distinct syndromes at present called OI. The largest group of
Clinical and Genetic Aspects in Autosomal Dominant Inherited Osteogenesis Imperfecta Type I
Dividing the offspring into two groups depending on whether or not male-to-male inheritance was present and performing segregation and penetrance calculation on these data did not produce any indications that there are two genetically distinguishable subtypes of osteogenesis imperfecta type I.