Archive for the ‘Osteogenesis Imperfecta Misdiagnosed As Child Abuse’ Category

Charges Against Parents Dropped After Osteogenesis ­Imperfecta Discovered

A couple were banned from being alone with their two young children after they were wrongly accused of abusing their baby.

Seven months later their child was ­diagnosed with osteogenesis ­imperfecta, a rare brittle-bone disease which means a light touch can snap his bones.

This disturbing story is part of a rising trend of cases.

For full story see:

Unexplained Fractures: Child Abuse or Bone Disease? A Systematic Review


Nirav K Pandya; Keith Baldwin; Atul F Kamath; Dennis R Wenger; Harish S Hosalkar


Child abuse and neglect (CAN) is a serious problem that has major implications for the welfare of the child involved. Unexplained fractures are of particular concern to the orthopaedic surgeon, who must often consider alternative diagnoses to CAN.


We therefore (1) determined which bone diseases most commonly mimic CAN; (2) what types of osteogenesis imperfecta (OI) are most commonly confused with CAN and why; and (3) what specific findings in OI and bone disease render a mistaken diagnosis of CAN more likely.


A systematic review of the literature was performed. We identified studies that compared cases of CAN with cases in which patients had bone disease that resulted in an unexplained fracture. We also included studies in which patients with fractures resulting from underlying bony pathology were misclassified as CAN and were subsequently reclassified as bone disease as a result of further investigation. Our search netted only five studies that directly compared and contrasted CAN with metabolic or genetic bone disease in the same study.


The published literature suggests OI is most frequently confused with CAN, although metaphyseal dysplasia, disorders of phosphate metabolism, and temporary brittle bone disease are also documented in the literature identified by our search. Difficulty in differentiating these bony diseases from CAN stems from ambiguity in the history and physical examination at the time of presentation.


Bone disease is a diagnosis of exclusion in the differential diagnosis of CAN.

Title:  Clinical orthopaedics and related research     Volume:  –     ISSN:  1528-1132     ISO Abbreviation:  –     Publication Date:  2010 Sep

Department of Orthopaedic Surgery, Children’s Hospital of Philadelphia, Philadelphia, PA, USA.


Accused Of Child Abuse – Medical Misdiagnosis

A Parent’s Worst Nightmare

Doctors said we’d abused our baby. Who would believe us?

By Salley Shannon


The pediatrics clinic at the hospital in Bethesda, Maryland, was jammed. Alice Velasquez, dressed in Army fatigues, passed four-month-old Liliana to her husband, Miguel, so she could stretch and check the clock. They had been in a waiting room at National Naval Medical Center for over an hour and a half. Now, Alice was late for duty at the Pentagon.

“Don’t worry, honey, it won’t be much longer,” Miguel told Alice. Then he kissed Liliana, and she began to coo.

A few days before, Alice had found two little bumps over Liliana’s left ribs. They felt bony, and bone problems ran in Alice’s family. The couple decided to ask the doctor to do x-rays during the “well baby” visit.

Husband and wife were a study in contrasts: Alice, blonde, outgoing, excitable; Miguel, olive-skinned, quiet, placid. He kept her calm until their turn finally came. Alice took Liliana. Miguel grabbed the baby’s diaper bag and toys, and they went into the exam room. It was the last moment of ordinary family routine they would have for the next five years.

“Healthy, four-month-old female, normal growth and development, gaining appropriately but on the smallish side,” say the notes of the intern who first examined Liliana on that day, February 3, 2000. The intern dismissed their fears about the bumps, but Alice persisted. A pediatrician, Dr. Paul Reed, agreed to order x-rays.

“I knew as soon as I saw Dr. Reed’s face that something was terribly wrong,” Alice says. The x-rays showed that several of Liliana’s ribs were broken. “These injuries are nonaccidental,” Dr. Reed told them. Someone has squeezed your baby, probably to make her stop crying, Alice recalls him saying. The doctors did more tests to check for other injuries. Alice began sobbing loudly.

People in white coats peppered Miguel with questions. What had happened? Did he drink a lot? Get angry? Shake the baby? Miguel was shocked speechless.

Because fractures stemming from compression injuries are often an indicator of child abuse, and noting Miguel’s seeming lack of emotion, Dr. Reed considered this a typical case of paternal mistreatment. He gave his opinion to his supervisor, Dr. Barbara Craig, head of the Armed Forces Center for Child Protection.

“We were so young and naive,” Alice says now, ruefully. She was 20, Miguel, 28.

The radiologist reading the next round of x-rays said Liliana also had a broken wrist and possibly a broken leg. This report, later found to be inaccurate, further convinced doctors of abuse.

Liliana was admitted to the pediatric unit at Walter Reed Army Medical Center for her protection, and another doctor examined her there. A summary of Liliana’s exam relates the following: no swelling, no bruises, no cuts, no burns. No evidence of pain. Well-nourished. Growing well. Not withdrawn. Clean clothes, earrings, painted toenails, very clean and well kept. Smiling, feeding, alert. Both parents attended all OB visits before the birth. Both parents bring her to clinic appointments.

The record also notes Alice mentioned bone problems in her family. Yet, medical experts would later testify, none of the many doctors at the Naval Medical Center or at Walter Reed recorded a thorough medical history, nor did they do a “differential diagnosis” to rule out what, besides abuse, could have caused Liliana’s broken ribs. All other tests, including a brain scan, were normal.

Well into the night, a doctor, two social workers from the Alexandria, Virginia, Child Protective Services, two Alexandria police detectives, and a military police officer all questioned the Velasquezes. They asked open-ended questions like, “How do you think this might have happened?”


The couple didn’t comprehend the jeopardy they were in. During that interview and subsequent ones, they speculated and wondered aloud if it was possible they’d been too rough with the baby. In one session, Miguel told a social worker that he had massaged the baby’s stomach when she was constipated. It was a folk treatment in his native San Salvador. His comment was heard in a very different way. What got written down was, “Father admitted to squeezing the baby.”

The next day, the couple say, a social worker told them that, in light of Liliana’s injuries and the interviews, the baby was going to be put in foster care. If either of them made a scene, it would hurt their chances of getting her back.

Alice began to cry but composed herself enough to write out the baby’s schedule. Miguel filled the diaper bag while Alice nursed the baby one last time, and then they carried her to a car waiting in the snowy street. She buckled Liliana into a car seat, and the social worker closed the door. And Alice lost it. She sprinted after the car, crying, “They took my baby!” Miguel ran after her to stop her, and they both crumpled onto the slush-covered sidewalk, weeping.

A series of emergency hearings took place over the next few days. Each time the Velasquezes appeared in court, friends, co-workers and members of their church came as character witnesses. Yet social workers did not interview any of them to ask what sort of parents the Velasquezes were.

A friend searched the Internet to find out what childhood diseases might result in broken bones. One condition jumped out: osteogenesis imperfecta (OI), “brittle bone disease.”

OI is caused by a defect in the production of collagen, the protein that holds bones together. A person with OI doesn’t have enough or has poor-quality collagen. In mild forms, a doctor looking at an x-ray can’t always tell if the bones are right or not. Broken bones are often the first sign of the disease. “I’ve had parents tell me about breaking a baby’s leg when they lifted them by the ankles to change a diaper,” says Heller An Shapiro, executive director of the Osteogenesis Imperfecta Foundation. “We get calls about false accusations of abuse all the time.”

On February 15, Alice told Dr. Barbara Craig why she suspected OI, listing her own history of broken bones. She would later ask that Liliana be tested — but the infant never was.

“Please test her!” Alice begged every doctor and social worker she encountered. “All I heard was, ‘You’re just making excuses for your husband. You’d better cooperate if you want your baby back,'” Alice says.

At their first emotional reunion with Liliana, in a visitors room at the Alexandria Social Services office, the Velasquezes noticed she was wearing the same clothes she’d worn when she was taken away the week before.

“Maybe the foster provider washed them,” Alice said hopefully to her husband. But when they changed Liliana, they knew it wasn’t so. Her undergarment was stained and smelled bad. Alice says the baby had a diaper rash so severe her bottom was bloody.

The Alexandria police knew where and when the Velasquezes were seeing their baby. That’s when they decided to arrest Miguel for felony child abuse.

Osteogenesis Imperfecta

Miguel was released on bond, but more problems began. He had been well into the process of becoming an American citizen. Now, because he had been charged with a felony, he faced possible deportation.

At her job at the Pentagon, Alice was reprimanded for crying on duty. Her weight plummeted. She fainted during physical training.

Every time the couple saw Liliana, they felt frantic. Their baby looked dirty, had diaper rash, or seemed feverish or weak. Once, they saw mold in her bottle. She didn’t seem to be growing. The Velasquezes say they reported all this to their social worker and their court-appointed lawyers. Little was done; nothing changed.

In the spring, the public defender in Miguel’s criminal case finally got a court order to test the child. The results didn’t come back until September. But when they did, they confirmed Liliana had osteogenesis imperfecta type I. The main symptom: fractures.

When he heard about the diagnosis, the prosecutor for the Commonwealth of Virginia, Roger Canaff, consulted Dr. Craig. She wrote later in a memo that the test was “experimental in nature,” and that doctors looking at the x-rays of a child with OI should see evidence of the faulty bones. Liliana’s bones, she said, looked “completely normal.” Other military doctors, then and later on the witness stand, said the same.

In fact, the test of bone collagen had been the “gold standard” for OI since the late 1980s. Insurance companies routinely reimbursed for it. It was very reliable. If a test is negative for OI, there is a chance a child might still have the disease, but there are no false positives. The military doctors were simply wrong in their beliefs.

But then the doctors took the position that even if Liliana did have OI, she still had been physically abused. E-mails between prosecutor Canaff and Dr. Craig said that the Velasquezes “lie and exaggerate,” make “bizarre statements” and “cannot be trusted.”

Canaff offered to reduce the charge from a felony to a misdemeanor if Miguel would plead guilty. Miguel responded that he had not harmed his child and would never say he had.

In October 2000, about a month after the OI diagnosis, Alice and Miguel found a large, festering burn on the top of Liliana’s right foot. The child was still in foster care. They photographed the burn and went before a judge, showing the pictures and citing other failures they perceived in her care. They wanted Liliana back. Failing that, they wanted her in a different foster home.

They lost.

A few months later, the social workers refused to let the Velasquezes see Liliana at all unless they agreed not to take anything but family photos, and not to change her clothes.

By this time in the ordeal, Alice’s weight had dropped from 140 pounds to 82. She had to take a hardship discharge from the Army. That meant they had no income and no health insurance — and Alexandria Social Services was charging them almost $700 a month for Liliana’s child support. Miguel still had immigration issues, and his name had been put on Virginia’s “abuser” registry. It became nearly impossible for him to find work.

Alice and Miguel had not seen their daughter for two months when they learned just before Christmas that she was in the hospital. Liliana had been brought in by ambulance, unconscious. Her blood sugar count was low. Seemingly she hadn’t been fed.

A nurse privately told Alice, “Your baby has been hospitalized here many times before.” Then she explained how to get Liliana’s hospital records.

Alice discovered the baby had been hospitalized a total of seven times, often for dehydration. Neither the Velasquezes, Liliana’s court-appointed attorney, nor her pediatrician had been informed.

Last Hope

A few days later at the hospital, Alice says, a social worker told them that if they didn’t confess to causing Liliana’s injuries, they might never get her back. “Pretty soon, we’ll put Liliana up for adoption.”

Giving in to the will of the bureaucracies aligned against them might have been the easiest way out. Alice and Miguel were penniless. Their church was feeding them and paying their rent. A long list of attorneys had refused to help them with a case against the state. They did not give in.

Fortunately, about that time they were referred to Dorothy Isaacs, a partner at Surovell Markle Isaacs & Levy. She agreed to take their case.

After more than a decade in the law, a lot of it in divorce court, Isaacs is no bleeding heart. She listened to Alice and Miguel, then read their documents and checked their backgrounds. And she grew enraged. “I believe there are a few things I was put on the planet to do,” Isaacs says. “I came to feel getting Liliana back and clearing Miguel’s name were on the list.”

Isaacs first helped get Liliana moved to a different foster home. Then, in July of 2001, ten months after the OI diagnosis and 17 months after she had first been taken from them, Liliana came home. By spring of 2002, the Velasquezes had formal, legal custody.

Late in the summer of 2004, the Virginia Court of Appeals overturned the finding of abuse against Miguel, essentially declaring that the Department of Social Services had made an error. It was the first such ruling on an abuse case in the history of the state.

It took two more months to get Miguel’s name off the state’s central registry of abusers. “I owe Dorothy Isaacs everything,” Miguel says softly. “She gave me back my baby. Then she gave me back my name.”

Finally, Isaacs filed suit in federal district court against the government, accusing the doctors who had treated Liliana of medical negligence, intentional infliction of emotional distress and malicious prosecution.

On October 11, 2005, Isaacs and her co-counsel began laying out the details of how the family had been shattered. After reviewing a thousand pages of records, experts in both child abuse and OI concluded the military doctors “breached the standards of care” by too quickly assuming Liliana had been abused by her father, by not doing a differential diagnosis, by not testing her, and then by insisting she had been abused even after the OI diagnosis was made.

Even an expert witness hired by the military testified that the test used to determine Liliana’s OI was reliable.

A settlement was reached, but there was no assignment of wrongdoing. The Velasquezes were, however, awarded $950,000. About half went for legal fees and expenses. A trust fund of $150,000 was set aside for Liliana. As far as is publicly known, no one at the hospitals or in social services was fired or reprimanded. The foster-care giver was not found negligent.

After the Velasquezes paid off their spiraling bills, they used the remaining money to buy a house for their family, which now also includes Tahlia, 5, and Korbin, 2. Tahlia has OI; her brother does not. Liliana, now 7, still has bad dreams but does not show overt problems arising from her terrible ordeal. She is not in therapy. She’s at home with her parents, who are trying to give her a normal life.

After the papers had been signed, Judge Richard D. Bennett read a statement into the record outlining the “living nightmare” the Velasquezes had endured. He encouraged Miguel to become a citizen. Then the judge said something rarely heard in a courtroom, “I apologize on behalf of the United States government,” and he came down off the bench and shook their hands.

Jan 2007


Osteogenesis Imperfecta -Differential Diagnosis To SBS

Shaken Baby Syndrome And Oteogenesis Imperfecta


Cabrerizo de Diago R, Ureña-Hornos T, Conde-Barreiro S, Labarta-Aizpun J, Peña-Segura JL, López-Pisón J.

Servicio de Pediatría, Hospital Infantil Universitario Miguel Servet, P.o Isabel la Católica 1-3, E-50009 Zaragoza, Spain.


INTRODUCTION: Shaken baby syndrome (SBS) is a form of physical abuse that includes the presence of a subdural or subarachnoid haematoma or diffuse cerebral oedema, retinal haemorrhages and, in general, absence of other physical signs of traumatic injury. Osteogenesis imperfecta (OI) is a genetic disorder affecting the synthesis of type I collagen that leads to brittle bones with frequently occurring fractures, with presenting clinical symptoms taking a variety of forms. A differential diagnosis allowing it to be distinguished from physical abuse is known, due to the existence of bone fractures with no known traumatic injuries, but we do not understand the link between OI and SBS. CASE REPORT: We describe the case of an infant who, at the age of 3 months, suffered symptoms of acute encephalopathy with convulsions, subdural haematoma and retinal haemorrhages compatible with SBS, as well as bilateral rib fractures. The skeletal series of X-rays revealed alterations in bone structure and texture, which led to a diagnosis of OI that was confirmed by a study of the collagen in skin fibroblasts. CONCLUSIONS: The suspected existence of SBS is unpleasant both for the health care professional and for the patient’s relatives. The existence of rib fractures in an obvious case of shaken baby syndrome suggested malicious abuse; however, the parents’ attitude and the existence of OI made us think that no harm was intended. Shaking could have been secondary to bouts of crying due to microfissures related to the OI. The differential diagnosis of processes that can be mistaken for shaken baby or from favourable or predisposing medical factors must be taken into consideration.


Brittle Bone Disease

Categories: Brittle Bone Disease

Radiological Features Of The Brittle Bone Diseases – Failure To Diagnosis May Lead To A False Diagnosis Of Abuse

Journal Of Diagnostic Radiography And Imaging

This paper describes some radiological features of osteogenesis imperfecta and temporary brittle bone disease. Both conditions cause fractures in early childhood that the parents cannot explain. They can underlie the finding of unsuspected fractures when x-rays are done for other reasons, including fractures of different ages. Both can readily be confused with non-accidental injury.

In these disorders any type of fracture can occur; no fracture pattern makes bone disease more or less likely. Metaphyseal fractures often regarded as specific for non-accidental injury, also have a wide range of other causes including several bone diseases such as osteogenesis imperfecta. Wormian bones, if present in excess, are a valuable pointer to osteogenesis imperfecta but their absence does not eliminate this diagnosis.

There is growing evidence for the identification of temporary brittle bone disease as a distinctive disorder with its own characteristic clinical and radiological findings.

Failure to recognize these disorders may lead to a false diagnosis of abuse and do immense harm to the family and not least the child in question.

To read the full article please see source:

Child Abuse Or Osteogenesis Imperfecta

A child is brought into the emergency room with a fractured leg. The parents are unable to explain how the leg fractured. X-rays reveal several other fractures in various stages of healing. The parents say they did not know about these fractures, and cannot explain what might have caused them. Hospital personnel call child welfare services to report a suspected case of child abuse. The child is taken away from the parents and placed in foster care.

Scenes like this occur in emergency rooms everyday. But in this case the cause of the fractures is not child abuse. It is osteogenesis imperfecta or OI. OI is a genetic disorder characterized by bones that break easily – often from little or no apparant cause. A person with OI may sustain a few or as many as several hundred fractures in a lifetime.

Visit The Osteogenesis Imperfecta Foundation for the full article:


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