National District Attorneys Association



Volume 16, Number 8, 2004


A Courtroom Diagnosis: Countering the Defense of Temporary Brittle Bone Disease and Mild OI

By Joëlle Anne Moreno, J.D.1

In child abuse cases involving multiple fractures, prosecutors and investigators are increasingly facing a relatively new defense. In some jurisdictions, judges are allowing defense medical experts to testify that infants have not been abused, but instead suffer from a mild form of Osteogenesis Imperfecta (OI) or a purported variant of OI, Temporary Brittle Bone Disease (TBBD). These diagnoses are offered in cases where the injuries are highly specific for abuse because they involve: (1) fractures typical of abuse in different stages of healing; (2) infants who have tested negative for conventionally diagnosable metabolic bone diseases (including OI); and (3) infants whose bones do not continue to fracture after they are placed in protective custody. 2

It is critically important for doctors, investigators and prosecutors to be able to distinguish bone disease from abuse because OI is the most frequent medical/legal defense in suspected cases of child abuse.3 This article will provide a brief and general overview of what is currently known and accepted in the medical literature about OI, and then examine more controversial diagnoses such as TBBD. Finally, strategies for prosecutors will be discussed for dealing with bone disease defenses.

What is Osteogenesis Imperfecta?

Osteogenesis imperfecta (OI) is a genetic disorder characterized by bone fragility and frequent fractures.

It is described in the medical literature as an “inherited disorder of connective tissue with deficiency of type I collagen leading to abnormal bone formation and increased bone fragility. As a result, trivial or unobserved injuries may cause fractures in those patients.”4 OI is extremely rare. The incidence is estimated to be between 1 in 15,000 to 1 in 60,000 births.5#

OI is classified into four major types, depending on the age of onset of fractures, extraskeletal manifestations, and mode of inheritance.6 Infants suffering from OI types I and II, who account for 80 percent of all cases of OI, have obvious clinical manifestations, such as blue sclera (the white area of the eye looks blue). In addition, OI type II is almost invariably lethal in the perinatal or neonatal period (causing death in the womb or shortly after birth).7 Of the remaining 20 percent of children who suffer from OI (types III and IV), those who have type III typically have wormian bones (a haphazard suture-like pattern seen on certain bone surfaces) and osteoporosis (fragile, porous bones). These bone abnormalities should be easily detected using radiologic tests. 8

The readily identifiable features of OI types I, II, and III enhance the likelihood that physicians examining a patient for OI can make an accurate diagnosis. Thus, only OI type IV, a mild form of the disease, might be confused with child abuse. However, even OI type IV has certain clinical indicators that experts can use to ensure a valid diagnosis.

“Patients with OI type IV have variable degrees of short stature, with mild to moderate deformity. Fractures may begin to occur prenatally and may be associated with deformity of the long bones that is evident at birth. . . . Affected patients generally have a triangular head, with a prominent forehead. Sclera are generally normal, except in infancy, when they have a blue hue. . . . Radiologic examination demonstrates osteoporosis, mild to severe bowing of the long bones, and spinal deformity. 9”

Prosecutors can use this medical information to argue that it is “generally uncomplicated to distinguish OI from child abuse.”10 One recent study “calculated the probability of encountering a child under one year of age with OI and no other features or family findings of the disease as between 1 in 1 million and one in 3 million, or an annual incidence of one case every 100 to 300 years in a city of half a million people.”11

Judges deciding whether to admit a defense diagnosis of a variant form of OI or TBBD must assess the likelihood that a child would suffer from this disorder, but have no signs or symptoms of the disease beyond multiple fractures. The “likelihood of a clinician seeing a child with mild type IV OI and with white sclera, normal hearing, normal dentition [teeth], negative family history, and no wormian bones is exceedingly rare.” 12 In the words of one medical expert, “[g]iven the rarity of this type of OI (1:1 to 3 million births), . . . relative to the frequency of child abuse, the probability of [diagnostic] error is minimal.”13 This last point is particularly important for multi disciplinary team (MDT) members considering the possibility of OI rather than child abuse. It is commonly accepted that child physical abuse is vastly under reported. However, the existing data shows that children age 0-3 comprise the majority of abuse victims, and that physical abuse (not including neglect and sexual abuse) affects at least two to three children per 1,000 in recent years. 14

What is Temporary Brittle Bone Disease?

The diagnosis of TBBD originated in 1990 at the Fourth Annual Conference of Osteogenesis Imperfecta. 15 TBBD is described as a short-lived developmental bone disease that results in easy bone fracturability in very young children for a limited period of time. 16 Unchallenged, a defense of TBBD might explain the existence of fractures that conflict with a caregiver’s clinical history that excludes trauma. TBBD presumes that an infant’s bones will break with routine non-abusive handling. The assumption that this disease is transient cannot adequately explain how all fractures stop once the child is placed in protective custody, when routine handling obviously continues under protective custody.

It is vitally important that all MDTs know that TBBD is not a recognized disease. 17 Despite the medical evidence discrediting TBBD,18 defenses based on this diagnosis have found a welcome reception in some courtrooms. Recently the Arizona Supreme Court concluded that it was an abuse of the trial court’s discretion to exclude defense expert testimony on TBBD. 19 The court adopted the defense argument that TBBD was a valid diagnosis and referred to the proffered expert, Dr. Colin Paterson, as “arguably the world’s preeminent TBBD expert.”20 However, Dr. Paterson’s TBBD publications have been challenged by other medical experts.

For example, in a 1989 article, Dr. Paterson and Dr. McAllion studied 804 patients who had been diagnosed with OI.21 The study concluded that although nonaccidental injury had been suspected in 113 of the cases (and 18 child abuse investigations initiated), none of the 804 patients had suffered from abuse.22 This study has been criticized by a prominent pediatrician who expressed concern about the lack of diagnostic criteria in this study 2323 and found that the symptoms purportedly associated with TBBD looked suspiciously like the characteristics of child abuse. Specifically, metaphyseal fractures that occur at the ends of long bones, vomiting, diarrhea, breathing abnormalities, liver enlargement, rib fractures and other abnormalities, which are listed as symptoms of TBBD, are also all classic signs of child abuse and neglect.24 This article exposes several methodological flaws in the published medical research that purports to establish the existence of TBBD.

Prosecutors should also be aware that TBBD has encountered more strenuous judicial resistance in England. In 2001, Judge Peter Singer of the Royal Courts of Justice, Family Division ruled that TBBD expert testimony was not only inadmissable, but also scientifically invalid citing “the subjectivity, the unreliability, the unscientific and unproved nature of Dr. Paterson’s speculations that TBBD exists as a clinical entity.” 25

Challenging Medical Testimony on TBBD and Mild OI

Testimony about unorthodox and unproven diagnoses like TBBD or mild OI can be challenged on their validity and a lack of acceptance in the general medical community under Frye26 or Daubert27 standards. The first step is to persuade the judge to put the defense diagnosis in context. This requires a fundamental understanding of OI, its recognized forms and its diagnostic criteria. Prosecutors can use this medical information to educate judges about the difference between a diagnosis of a recognized type of OI and a diagnosis of a variant form of OI or TBBD, which often lack both diagnostic criteria and valid empirical support. In the event that the evidence is admitted over prosecution objection, this medical evidence should form the basis of an effective cross-examination.

OI can be diagnosed with a high degree of medical certainty based on radiographic testing, family history, and in rare cases a collagen test. When the patient lacks clinical signs and has tested negative for OI, prosecutors should be ready to probe defenses based on variant forms of OI, including TBBD. These disorders have not been accepted by the general medical community, and their underlying theory and diagnostic methodologies have been criticized by recognized experts in the field.

Whenever a bone disease defense is raised, prosecutors should consider the surrounding circumstances, evaluate the medical evidence, and employ common sense and simple logic. Has the child suffered any further fractures since being removed from the suspect’s care? Are these fractures highly specific for abuse (such as metaphyseal fractures where the bone flares, rather than long bone fractures)? Are the fractures unlikely to be caused by routine handling (even of a child who does suffer from a bone-weakening disease)? 28 Working together, MDT members can help differentiate abuse from recognized illness and prevent judges and jurors from using improper and unfounded scientific testimony to decide child abuse cases.


1 Associate Professor of Law, New England School of Law.
2 See David F. Merten, “Skeletal Manifestations of Child Abuse,” in Child Abuse: Medical Diagnosis and Management p. 46 (Robert M. Reece, MD. & Steven Ludwig, MD. eds., 2d.ed. 2001).
3 See Merten, supra, note 2. “Of all the various conditions invoked by parents and their legal representatives to explain inflicted fractures, OI is cited most frequently. It is therefore essential [for physicians] to be familiar with the classification of OI and the features that distinguish it from child abuse.”
4 See id.
5 Leonard E. Swischuk, “Radiographic Signs of Skeletal Trauma,” in Child Abuse: A Medical Reference, 2d Ed. p. 170 (Stephen Ludwig & Allan Kornberg eds.1992).
6 See Kleinman, P.K., MD Diagnostic Imaging of Child Abuse, 2d Ed. (Mosby 1998) at 210.
7 See id.
8 See id.
9 Arthur Zinn, “Genetic Disorders that Mimic Abuse or SIDS,” in Child Abuse: Medical Diagnosis and Management, 412 (Robert M. Reece, Md. & Stephen Ludwig, Md. eds., 2d ed. 2001).
10 See id.
11 See Jan Bays, “Conditions Mistaken for Child Abuse,” in Child Abuse: Medical Diagnosis and Management 380 (Robert Reece, MD, and Stephen Ludwig, MD, eds. 2d Ed. 2001)(noting that “[s]everal rare metabolic conditions are associated with bones that are easily fractured”).
12 See Deborah S. Ablin & Sashikant M. Sane, Non-Accidental Injury: Confusion with Temporary Brittle Bone Disease and Mild Osteogenesis Imperfecta, 27 Pediatric Radiology (1997) 111. (“[I]n the unusual case, a skin biopsy to obtain cell culture for collagen analysis [widely accepted as a valid diagnostic tool] can be ordered.”).
13 See David F. Merten, “Skeletal Manifestations of Child Abuse,” in Child Abuse: Medical Diagnosis and Management 46 (Robert M. Reece, Md. & Stephen Ludwig, Md. eds., 2d ed. 2001).
14 U.S. Department of Health and Human Services Children’s Bureau (online). Child maltreatment 2001: reports from states to the National Child Abuse and Neglect Data System. Available at
15 See Ablin & Sane, supra note 12, at 111-113.
16 See, e.g., Ralph Hicks, “Relating to Methodological Shortcomings and the Concept of Temporary Brittle Bone Disease,” 68 Calcified Tissue International, 316, 316-19 (2001); Mark E. Miller and T.N. Hangartner, ȁTemporary Brittle Bone Disease: Association with Decreased Fetal Movement and Osteopenia,” 64 Calcified Tissue International 137, 137-42 (1999); Colin R. Paterson & Susan McAllison, “Osteogenesis Imperfecta in the Differential Diagnosis of Child Abuse,” 299 Brit. Med. J 1451, 1451-54 (1989).
17 See Deborah S. Ablin, MD, “Osteogenesis Imperfecta: A Review,” 49 Canadian Association of Radiologists J. 110, 110-23 (1998) (noting that TBBD “remains a medical hypothesis lacking the support of sound scientific data”).
18 See id.
19 State v. Talmadge, 999 P.2d 192 (Ariz. 2000).
20 Id. at 194.
21 Colin Paterson & Susan .J. McAllion, “Osteogenesis Imperfecta in the Differential Diagnosis of Child Abuse,” 299 Brit. Med. J. 1451-1454 (1989).
22 See id.
23 See Jan Bays, supra note 11 at 380.
24 See id. See also Kleinman, PK, Marks, SC, Blackbourne, B. “The Metaphyseal Lesion in Abuse Infants: A Radiologic-Histopathologic Study.” AJA Am J Roentegenol 1986; 146:895-905 (describing how the classic metaphsyseal legion is virtually pathognomic of abuse).
25 Re X (Non-Accidental Injury: Expert Evidence), 2 F.L.R. 1, 27 (Royal Courts of Justice, Fam. Div. 2001).
26 Frye v. United States, 54 App. D.C. 46, 293 F.1013 (1923).
27 Daubert v. Merrell Dow Pharmaceuticals, 509 U.S. 579 (1993).
28 See, e.g., Kleinman, PK, Marks SC, Blackbourne, B. The Metaphyseal Lesion in Abused Infants: A Radiologic-Histolopathologic Study. AJA Am J Roentgenol 1986; 146: 895-905.