Case Studies: Osteogenesis Imperfecta

Image showing Osteogenesis Imperfecta patientThe fifteen year old boy who is pictured here was admitted to the Nuffield school at Kaithady for the hard of hearing due to deafness.

Following a basic screening and audiometry testing, hearing aids were issued and his education continued without any further assessment.

However, the blue sclera in his eyes combined with a conductive hearing loss, are actually symptomatic of patients suffering with a condition called ‘Osteogenesis Imperfecta’ or associated with Marfans or Wardenburgh syndrome.

When correctly diagnosed, this condition can be quickly helped with the appropriate hearing aids for the nature of the loss, or if there is a marked conductive loss, a procedure called a Stapedectomy will help.

With the correct diagnosis and treatment, he could be attending a normal school, thus hugely improving his quality of life. This case illustrates the real importance of an holistic approach Primary Ear Care as opposed to the blanket distribution of hearing aids for deafness instead of to condition-appropriate understanding and care.