Genetic causes of fractures and subdural hematomas: fact versus fiction.

Genetic disorders are in the differential diagnosis when young children present with unexplained fractures or intracranial hemorrhage. For medical and legal reasons, it is imperative to make the correct diagnosis and provide clear, evidence-based explanations of how alternative diagnoses were ruled out. A genetics consultation in cases of suspected child physical abuse should synthesize the history of present illness, medical history, family history, physical examination, and radiologic and laboratory findings in consultation with other specialists. The medical geneticist highlights how these disorders truly present. When the natural history of a genetic disorder is understood, it becomes clear that genetic disorders are not mysterious or difficult to diagnose. As highlighted in this case-based review, mainstream medical practice allows for differentiation among the intracranial and skeletal manifestations of osteogenesis imperfecta, Menkes disease, glutaric acidemia type 1 and child physical abuse. This review also highlights how a genetic disorder, Ehlers-Danlos syndrome, can be misused in a courtroom. Finally, this review summarizes when genetic testing is appropriate in cases of suspected child physical abuse.

Proximal femoral physeal fractures in children: a rare abusive injury.

BACKGROUND: Proximal femoral physeal fractures are rare in abused children. Recognition may be hampered due to their rarity and lack of an ossified femoral head. Prompt diagnosis and treatment are essential to preventing coxa vara. OBJECTIVE: To demonstrate the radiographic features of proximal femoral physeal fractures both with unossified and ossified femoral heads. MATERIALS AND METHODS: We reviewed our Institutional Review Board-approved 21-year radiology database of 2,206 children who had a skeletal survey as part of their medical evaluation for possible abuse. Cases of proximal femoral physeal fractures were identified. RESULTS: Eight patients, ages 2.5 to 26 months, with 10 fractures were found, yielding a prevalence of 0.4% (8/2,206). In all fractures, there was lateral displacement of the proximal femur. In three fractures, the femoral head was not ossified, simulating a hip dislocation. The intra-articular location of the femoral head was verified by ultrasound or abdomen computed tomography. Subperiosteal new bone formation was present in six fractures, all non-weight-bearing patients. The femoral head was ossified in seven cases, all with medial rotation of the femoral head. Metaphyseal irregularity was present in three of four fractures of the weight-bearing patients; two of three also had metaphyseal scalloping resembling osteomyelitis. The three with metaphyseal irregularity developed coxa vara. CONCLUSION: Proximal femoral physeal fractures are rare in abuse cases. All present with lateral displacement of the proximal femur. With an unossified femoral head, it can simulate hip dislocation, which can be clarified with hip sonogram. Metaphyseal irregularity appears to be a feature in weight-bearing patients.