Searchable abstracts of presentations at key conferences on calcified tissues

ba0007p48 | (1) | ICCBH2019

Does improved genetic screening make it more difficult to diagnose Osteogenesis Imperfecta?

Burke Eleanor , ODonnell Gillian , McCarron Laura , McDonnell Ciara

Background: Genetic advances have led to the identification of 14 genes implicated in Osteogenesis imperfecta [OI], encompassing 96–98% of cases. Hallmark features of osteogenesis imperfecta include fractures from minimal trauma, bowing of the legs and growth retardation. Non-skeletal features include blue sclera, dentinogenesis imperfecta, hearing and refractory visual deficits, pulmonary dysfunction and cardiac valvular malformations. Classical radiographic features are...