Because a misdiagnosis can be so devastating, orthopaedic surgeons should be aware of clues that indicate the potential presence of OI.

Osteogenesis imperfecta (OI) should always be part of the differential diagnosis of a suspected victim of child abuse, contended Mininder S. Kocher, MD, MPH, when he presented the results of his study, “Osteogenesis Imperfecta Misdiagnosed as Child Abuse” at the 2007 annual meeting of the Pediatric Orthopaedic Society of North America.

According to Dr. Kocher, a misdiagnosis of child abuse rather than OI can have devastating consequences for everyone involved. The child and other siblings may be removed from the home, and family members may be stigmatized and put at odds with health care providers, social welfare agencies, law enforcement agencies, and the judicial system. The families may experience extreme emotional stress and financial burdens. Media attention and the legal action that may follow exposure of such a misdiagnosis can have a negative effect on health care providers.

Correctly diagnosing OI can be difficult, said Dr. Kocher, because “both physical abuse and OI can present with the clinical scenario of fracture in an infant or young child with a minimal history of injury.” In addition, child abuse is much more common than OI.

Retrospective study
The IRB-approved, retrospective case series study evaluated 61 potential cases of misdiagnosis of OI as child abused identified from membership in Protect our Families, a lay support organization. The organization advocates for the rights of children whose bone disorders and medical symptoms have been misdiagnosed as child abuse, and also advocates for their families. Of the 61 potential cases, 28 were excluded for the following reasons: clinical diagnosis unconfirmed by genetic testing (14), the diagnosis of temporary brittle bone disease (11), the diagnosis of idiopathic transient osteoporosis (2), or the diagnosis of rickets (1).

The 33 families in the study completed anonymous questionnaires that asked specific questions about birth information, pregnancy information, baby’s infancy, first indications of injury, in-hospital experience, removal of the child, diagnosis of OI, regaining child, legal experience, and current history.

The mean age of the child when first seen was 7.1 months (range: 1 to 23 months). Symptoms included pain (14 children), swelling (7 children), decreased limb movement (5 children), or unusual limb position (2 children). All patients had fractures. There was no known accident in 14 of the 33 children.

The children were originally brought either to the emergency room (18) or the doctor’s office (15). All patients had radiographs of the injury, and 32 patients had additional imaging (skeletal survey or bone scan). Multiple fractures were found in 28 children; the average number of fractures found was seven. The femur, ribs, tibia, and humerus were the most common fracture locations. Fractures in multiple stages of healing were seen in 24 children. Bruising was noted in 10 children.

Diagnosis of OI
In this study, 31 children were eventually diagnosed with type I OI, 1 child was diagnosed with type IV OI, and 1 child was diagnosed with an undefined form of OI. Although the children in this series were initially misdiagnosed as cases of child abuse and OI was not initially recognized, features of OI were often noted when they were first seen.

For example, more than half of the children (58 percent) had abnormal radiograph findings—such as osteopenia, Wormian bones, and bowing—that are consistent with OI. Nearly three quarter of the children had clinical findings of OI, including blue sclera, dentinogenesis imperfecta, hypermobile joints, triangular faces, thin skin, excessive sweating, easy bruising, and limb deformity. More than half of the families (55 percent) had family histories that could be supportive of OI, including multiple fractures, blue sclera, osteoporosis, brown/gray teeth, and hypermobile joints.

Impact of misdiagnosis
Before the OI was finally diagnosed, 23 children were taken from their families and placed in foster care, while the remaining 10 children were able to stay with their families or relatives. “In all cases of children in foster care,” reported Dr. Kocher, “parents had limited visitation and difficulty making further doctor appointments. Parents were denied access to some or all medical records in 27 of 33 cases.”

Establishing the diagnosis of OI was a major factor in returning the child to the home in most cases. Nearly one third of the families filed lawsuits against physicians, hospitals or the department of social services.

“The results of this study demonstrate the extreme psychosocial costs to families resulting from misdiagnosis, including the removal of child and siblings, legal costs (mean amount spent was $42,000), and stigmatization,” said Dr. Kocher. “The misdiagnosis of OI as child abuse also has potential medicolegal and publicity implications for health care providers and hospitals.”

As a result of this study, the authors recommend several steps, including the following:

• Education on the diagnosis and clinical features of OI to help physicians and surgeons recognize this disorder
• Early involvement of a bone specialist or geneticist to establish a timely and accurate diagnosis
• Avoiding a overly accusatory or adversarial approach to families in cases of suspected abuse
• Involving the child’s pediatrician in cases that are seen in an emergency room
• Referring families of children with OI who have been misdiagnosed to support groups and providing psychosocial support to them

Dr. Kocher was assisted by Laura Dichtel, MD; Ingrid Holm, MD, MPH; and James R. Kasser, MD.