Temporary Brittle Bone Disease: A True Entity?

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Temporary brittle bone disease is a recently described phenotype of increased fracture susceptibility in the first year of life in which there are multiple unexplained fractures without evidence of other internal or external injury. Most child abuse experts do not accept the existence of temporary brittle bone disease and presume these cases are child abuse. The author reviewed 26 cases of infants with multiple unexplained fractures that fit the criteria of temporary brittle bone disease and studied nine of them with either computed tomography or radiographic bone density measurements. The results show a striking association between temporary brittle bone disease and decreased fetal movement, usually from intrauterine confinement, and low bone density measurements in eight of the nine infants. The association with decreased fetal movement and intrauterine confinement is in keeping with the mechanostat-mechanical load theory of bone formation. The author feels that temporary brittle bone disease is a real entity and that historical information related to decreased fetal movement or intrauterine confinement and the use of bone density measurements can be helpful in making this diagnosis.



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