ESPE Abstracts

Osteogenesis imperfecta, also known as "brittle or glassy bone disease", is a connective tissue disease that occurs as a result of quantitative and qualitative changes in type 1 collagen. The disease is transmitted in an autosomal dominant way and the incidence is 1:20,000.

The aim: of the study was to evaluate the clinical characteristics and treatment of children diagnosed with osteogenesis imperfecta in children.

Materials and Methods: 10 patients diagnosed with Osteogenesis imperfecta were examined in the pediatric department of teaching and therapeutic clinic of the Azerbaijan Medical Univercity during 2020-2023 years. 3 of the patients were boys and 7 were girls. Patients were between 5-14 years old, the average age was 11.2 years. The diagnosis was made on the basis of clinical, X-ray and laboratory examinations.

Results: As a result of the study, bone fractures and bone deformations, which are the main symptoms of osteogenesis imperfecta, were found in each of 10 children. Of the bone fractures, 6 (50%) were femur, 2 (16.7%) humerus, 2 (16.7%) elbow, 1 (10%) shin (8.3%) and 1 (8.3%) shaft. 5 out of 10 children (50%) had blue colored sclera from other symptoms of the disease, 2 (20%) had spinal deformations, 3 (30%) had hypermobile joints, 4 (40%) had dentinogenesis imperfecta, 4 (40%) short stature was noted. Minimal valvular regurgitation was detected in 1 patient (10%) as a result of echocardiography examination. Cases of hearing loss that may occur in old age have not been identified in any patient. All patient was treated with pamidronate. Any bone fractures in the children was not ovserved after treatment and improved densitometry indicators.