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The exact nature of this relationship has not been definitively established, however, and because physicians and scientists agree that osteogenesis imperfecta does not occur at birth, it has often been considered a non-immunogenic condition. 1 The theory that some children may have a genetic predisposition to develop neonatal osteogenesis imperfecta has also been advanced. However, despite some authors support for the theory, there are substantial arguments against it. In terms of the incidence of neonatal osteogenesis imperfecta, this disorder is not as common as once thought, with an estimated incidence of 1 in 160,000 to 200,000 births and a worldwide incidence of 1 in 10,000 to 20,000 births. 2,3 4,5 6 The wide range of incidence is probably due to variable ascertainment of the condition, and the assumption by some authors that the osteogenesis imperfecta group of disorders should be considered to be a unitary disease entity.
In 2005, the World Health Organization (WHO) recommended that screening for neonatal osteogenesis imperfecta be performed using DEXA scanning on children at risk. 6,7 In 2009, the American Society for Bone and Mineral Research reported that DEXA scanning was not accurate for assessing skeletal health in premature infants; thus, the society recommended that DEXA scanning be reserved for the identification of rare disorders with associated osteopenia or fractures. 8 A 2013 meta-analysis of the literature found that DEXA scans were accurate for diagnosis and prediction of osteopenia and fractures in children over the age of 18 months, but, for children younger than 18 months, DEXA scanning was only moderately accurate for the detection of fractures. 9 This study suggested that DEXA scanning could be considered as a screening tool for the detection of potential low bone mineral density. 10 In a meta-analysis of DEXA scans, detecting neonatal osteogenesis imperfecta was considered to be a high-priority task. 11 However, many screening programs for neonatal osteogenesis imperfecta be359ba680
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