Osteogenesis Imperfecta

 

Signs and Symptoms:

1. Blue sclera: A bluish tint to the whites of the eyes due to the thinness of the collagen fibers.
2. Brittle bones: Frequent fractures with minimal or no trauma.
3. Dental abnormalities: Brittle teeth that may break easily.
4. Hearing loss: Due to abnormalities in the bones of the middle ear.
5. Multiple unexplained fractures: Often the first clue to the diagnosis.

Initial Investigation:

i. Clinical examination: Detailed history and physical examination focusing on the signs and symptoms mentioned.
ii. Genetic testing: To confirm the diagnosis of osteogenesis imperfecta by identifying mutations in the genes responsible for collagen production.

Management:

. Bisphosphonates: Medications that help to strengthen bones and reduce fracture risk.
. Physical therapy: To improve mobility and strengthen muscles around the bones.
. Surgical intervention: It may be necessary to correct bone deformities or stabilize fractures.
. Hearing aids: For those with hearing loss due to otosclerosis.