Thelansis

  Osteogenesis Imperfecta (OI), or brittle bone disease, is a genetic disorder affecting connective tissues due to abnormalities in the synthesis or processing of type I collagen. This condition leads to increased susceptibility to bone fractures and reduced bone density. Other symptoms include blue sclerae, dentinogenesis imperfecta, short stature, and adult-onset deafness. Reports also indicate valvular insufficiencies and aortic root dilation. Milder symptoms include generalized laxity, easy bruising, hernias, and excessive sweating. Clinical manifestations range from nearly asymptomatic forms to severe cases (such as infants with crumpled ribs, fragile cranium, and long bone fractures incompatible with life) that increase perinatal mortality. OI is a rare genetic disease, often stemming from mutations in the COL1A1 and COL1A2 genes. The International Society of Skeletal Dysplasias classifies OI based on the mode of inheritance and genes involved: Osteogenesis Im...