BUSRA TEKİN, RUSEN DEMİR, EBRU AKLEYİN
Journal of Clinical Trials and Experimental Investigations - 2024;3(1):10-14
Osteogenesis imperfecta (OI), also known as glass bone disease, is associated with mutations in COL1A1 and COL1A2, which encode collagen type I chains, and is inherited in an autosomal dominant manner. However, as the molecular structure of the disease progresses, new autosomal recessive types have been identified. Type VII has recently been defined as a type of OI caused by the mutation of a fatal recessively inherited cartilage-associated protein (CRTAP) that causes moderate to severe bone deformities. Type VII OI is characterized by fractures at birth, blue sclera, early deformity of the lower extremities, coxa vara, and osteopenia. There is no known cure for this disease. There are few definitions of craniofacial and oral manifestations of type VII OI available in the literature. The aim of this study was to improve the quality of life of a 6-year-old pediatric patient with primary dentition diagnosed with OI type VII by providing oral rehabilitation, and to offer qualified treatment alternatives to such patients.
