Summary
http://link.springer.com/article/10.1007%2FBF02957705 Abstract
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. http://www.unboundmedicine.com/medline/citation/10331468/abstract/Temporary_brittle_bone_disease:_a_true_entity Osteogenesis imperfecta: the distinction from child abuse and the recognition of a variant form.6/30/2015 Unexplained fractures are characteristic of both osteogenesis imperfecta (OI) and non-accidental injury (NAI) but in most cases the diagnosis is straightforward. However, in a few OI patients an initial diagnosis of NAI is made. Factors contributing to such difficulties include failure to recognise that OI can occur without a family history, without blue sclerae, without osteopenia, without an excess of Wormian bones, or with metaphyseal fractures. In addition we report on 39 patients with an unusual history in that fractures only occurred in the first year of life. Rib fractures, metaphyseal abnormalities and periosteal reactions were common. The initial diagnosis was usually OI if the fractures occurred in hospital, but NAI if they appeared to have been sustained at home. Additional findings such as anaemia, vomiting, hepatomegaly, and apnoeic attacks were often found in these patients. The disorder has some similarities to the syndrome of infantile copper deficiency. Like the latter it is particularly common in preterm infants and in twins. Therefore, we are attempting to examine the incidence of significant hypocupraemia in unselected preterm infants. We suggest that the likely cause of this "temporary brittle bone disease" is a temporary deficiency of an enzyme, perhaps a metalloenzyme, involved in the post-translational processing of collagen.
http://www.biomedsearch.com/nih/Osteogenesis-imperfecta-distinction-from-child/8456801.html Summary
Infants who present with multiple unexplained fractures in which there is no prior trauma, no radiographic evidence of metabolic bone disease, and no biochemical evidence of metabolic bone disease are almost always diagnosed as victims of child abuse, even though parents and caregivers deny wrongdoing. Such a diagnosis has far reaching implications for the infant and family. This article describes the clinical features of 65 such infants with multiple unexplained fractures in which the parents and caregivers deny wrongdoing and in which child abuse was diagnosed. These infants have the phenotype of temporary brittle bone disease that was described by Paterson. A striking observation in these young infants is the pregnancy history of decreased fetal movement. A hypothesis is suggested as an alternative explanation for the mechanism of these fractures in these infants – namely temporary brittle bone disease from fetal immobilization. This hypothesis states that fetal bone loading through fetal movement is essential for the formation of bones of normal strength. This hypothesis is an application of Frost’s mechanostat/bone-loading model of bone physiology to the prenatal period of bone formation. This hypothesis explains many of the other observations about temporary brittle bone disease including the early onset of the fractures in the first several months of life, the lack of bruising, the lack of other internal organ injury, and the low risk profile of many of the parents for committing child abuse. http://www.medical-hypotheses.com/article/S0306-9877%2805%2900259-8/abstract Abstract
Vitamin D deficiency rickets has long been recognized as a cause of fractures and fracture-like appearances in young children. Often seen in the early 20th century, rickets has recently been regarded as uncommon; the radiological appearances, familiar to previous generations, may not be recognized for what they are. This article reports four children with unexplained fractures initially attributed confidently to non-accidental injury. In each case, the later evidence of vitamin D deficiency led to a reconsideration of that diagnosis. Conclusion: It is important to be aware of this bone disorder in the differential diagnosis of fractures, to investigate appropriately and to recognize that the radiological appearances may be misleading. A mistaken diagnosis of abuse does real harm, not least to the child itself http://onlinelibrary.wiley.com/doi/10.1111/j.1651-2227.2009.01407.x/abstract Abstract
Multiple fractures of the long bones can be seen in the intrauterine period as a result of disorders such as skeletal dysplasias or maternal trauma, but isolated intrauterine femoral fracture is an extremely rare condition. Congenital short femur should be kept in mind, especially during the intrauterine period in the differential diagnosis. We report a case diagnosed as isolated femoral fracture in the 34th gestational week with post-partum confirmation of the diagnosis by X-rays and physical examination. http://onlinelibrary.wiley.com/doi/10.1111/j.1447-0756.2007.00707.x/abstract |