Bone Diseases in Children

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Children have a general predisposition to fracture for many reasons to do with their levels of physical activity in play and sport, and their limited ability to sense risk and danger.
However they are more likely to be physically abused than any other group, and multiple or repeated fractures in a child should ring alarm bells.
The most important malignant tumour of bone, osteosarcoma, is principally limited to children.
A rarer malignant tumour in bone, Ewing's tumour, is also largely confined to children. Paediatric bone disorders resulting from abnormal skeletal development are an important group of diseases, the most important examples being achondroplasia and osteogenesis imperfecta.
Osteogenesis imperfecta may lead to spontaneous fractures with minimal trauma in infancy and childhood and, occasionally, I in utero
Osteogenesis imperfecta is due to mutations in the gene coding for Type I collagen, resulting in abnormal collagen formation in osteoid.
This leads to widespread weakness of bone, with multiple fractures frequently leading to severe deformity.
Formation of the teeth is also affected, and the collagen of the sclera of the eye is poorly formed, giving rise to the characteristic physical sign of pale blue sclerae.
The pattern of inheritance can be either dominant or recessive, and there is marked variation in severity; most severe cases are usually stillborn due to extensive intrauterine fractures.
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Revised: 02-11-2014.