Abstract
Osteogenesis imperfecta is a rare genetic connective tissue disorder. It is characterized by increased bone fragility, dentigerous imperfecta, and generalized ligamentous laxity. The incidence is one in 15,000 live births. The basic defect is in the formation of type 1 collagen. Children with OI have blue sclera, short stature, hearing impairment, and an increased tendency for fractures and deformities during childhood. The manifestations of these clinical features vary according to the type of disease. OI is divided into four types based on phenotypic severity: mild (Type I), moderate (Type IV), severe (Type III), and perinatally lethal (Type II) by Sillence (Table 1). Spine deformities are seen in more than 50% of cases of OI. Milder varieties have a dominant mutation in the COL1 A1 and COL1 A2 genes. Recessive varieties are severe. The diagnosis of OI is clinical although sometimes requires a skin biopsy, and DNA sequencing can help in classification [1].
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Zacharia, B. (2023). Rare Causes of Scoliosis in Children: A Bird’s Eye View. In: Zacharia, B., Raja, S.D.C., KV, N. (eds) Paediatric Scoliosis . Springer, Singapore. https://doi.org/10.1007/978-981-99-3017-3_38
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