osteogenesis imperfecta type iv

description

osteogenesis imperfecta (oi) is a clinically and genetically heterogeneous group of inherited disorders of connective tissue, characterised by bone fragility. associated features in some individuals include blue sclerae, dentinogenesis imperfecta, hearing loss, deformity of the spine and long bones and joint hyperextensibility. the disorder is currently categorised into 4 major types, according to the phenotypic classification of sillence. there are several sub-types as well as marked heterogeneity at the clinical, radiological and molecular level, within these groups. osteogenesis imperfecta is characterised by marked inter- and intra-familial variability, making prenatal diagnosis difficult even in families with an established diagnosis. osteogenesis imperfecta type lv is autosomal dominant in inheritance. it is characterised by normal coloured sclerae in adulthood, and mild to moderately severe bone fragility. the patients can be further classified into subgroups: a (with normal teeth) and b (with dentinogenesis imperfecta).