Nonaccidental injury osteogenesis imperfecta

Child abuse is a preventable phenomenon of considerable concern resulting in significant child mortality and morbidity. We analyze various abuse lesions such as radiological (visceral and skeletal lesions and those associated with head trauma) and cutaneous (burns, bruises, bites, etc.) to enhance streamlined identification of injuries in cases of physical child abuse. For effective results, it is essential to remain mindful of all background factors, such as the caregiver setting and the prevalence of child maltreatment in the concerned community while acknowledging the possibility of natural causes (genetic diseases such as osteogenesis imperfecta and hemophilia, or acquired abnormalities) that can mimic NAT and cause confusion in diagnosis and treatment...

BACKGROUND: Osseous injuries are a major facet of child abuse and in most patients radiographic imaging plays a major role in diagnosis. While some injuries are typically produced as a result of excessive and inappropriate force other injuries are nonspecific in terms of their causation, but become suspicious when the history provided by the caretakers is inconsistent with the type of injury produced. QUESTIONS/PURPOSES: I detail the radiographic imaging of the more characteristic of the highly specific injuries, discuss the major issues that relate to some moderate- or low-specificity injuries, and describe several diseases that mimic abuse...

Nonaccidental trauma can be difficult to differentiate from osteogenesis imperfecta (OI), especially in the face of multiple fractures. When nonaccidental trauma is being considered, medical causes of injury must be ruled out. In this report, we discuss the case of an 11-month-old female infant who presented with a transverse femur fracture and was also found to have a healing transverse humeral fracture and rib fractures. Medical causes of the fractures were investigated by performing an analysis of urine organic acids, serum amino acids, vitamin D, parathyroid hormone, ceruloplasmin, copper, and blood sequencing for COL1A1 and COL1A2...

Osteogenesis imperfecta (OI) represents a rare heterogeneous group of inherited disorders characterized by low bone mass, increased bone fragility, and other connective tissue manifestations. This condition can contribute to dramatic complications after a seemingly insignificant injury. A large epidural hematoma that developed in a child with OI after a trivial fall highlights the importance of close monitoring in these patients. After an injury that occurred several months prior to the head trauma the authors describe, this child had been placed in foster care because it was believed that his skeletal injuries were caused by nonaccidental injury...

We report 12 patients with osteogenesis imperfecta initially diagnosed with nonaccidental injuries. As a result, formal hearings, care proceedings, and criminal proceedings ensued and seven of the children were removed from their parents. The features suggestive of osteogenesis imperfecta at the time of the initial investigation included a positive family history in six patients, scleral discoloration in nine, abnormally large anterior fontanels in four, excessive numbers of wormian bones in four, abnormal bone texture in two, and abnormal biochemical findings in three...

Osteogenesis imperfecta (OI) is probably the most common genetic form of fracture predisposition. The term OI encompasses a broad range of clinical presentations that may be first apparent from early in pregnancies to late in life, reflecting the extent of bone deformity and fracture predisposition at different stages of development or postnatal ages. Depending on the age of presentation, OI can be difficult to distinguish from some other genetic and nongenetic causes of fractures, including nonaccidental injury (abuse)...

Increased awareness of child abuse has led to better understanding of this complex problem. However, the annual incidence of abuse is estimated at 15 to 42 cases per 1,000 children and appears to be increasing. More than 1 million children each year are the victims of substantiated abuse or neglect, and more than 1,200 children die each year as a result of abuse. The diagnosis of child abuse is seldom easy to make and requires a careful consideration of sociobehavioral factors and clinical findings. Because manifestations of physical abuse involve the entire child, a thorough history and a complete examination are essential...

Infants who present with multiple unexplained fractures pose a difficult diagnostic dilemma of child abuse versus intrinsic bone disease. Temporary brittle bone disease is a recently described disease characterized by a transient bone weakness in the first year of life which presents with multiple, unexplained fractures that can be confused with child abuse. The purpose of this study was to determine if there are common, historical features in infants with unexplained fractures that might suggest a basis for the fractures, and to determine if bone density measurements might indicate that such infants have low bone density...

A case of nonaccidental injury in a child with severe osteogenesis imperfecta (OI) is described. The problems of diagnosis of child abuse in this group of patients are discussed.