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Posted: Mon Mar 13, 2006 9:42 am
by Dazeemay

Osteogenesis imperfecta: the distinction from child abuse and the
recognition of a variant form.

Paterson CR, Burns J, McAllion SJ.

Department of Biochemical Medicine, University of Dundee, Scotland.

Unexplained fractures are characteristic of both osteogenesis imperfecta (OI) and non-accidental injury (NAI) but in most cases the diagnosis is straightforward. However, in a few OI patients an initial diagnosis of NAI is made. Factors contributing to such difficulties include failure to recognise that OI can occur without a family history, without blue sclerae, without osteopenia, without an excess of Wormian bones, or with metaphyseal fractures. In addition we report on 39 patients with an unusual history in that fractures only occurred in the first year of life.
Rib fractures, metaphyseal abnormalities and periosteal reactions were common. The initial diagnosis was usually OI if the fractures occurred in hospital, but NAI if they appeared to have been sustained at home.
Fxs at hospital--- OI.

Fxs at home--- non-accidental.
Additional findings such as anaemia, vomiting, hepatomegaly, and apnoeic attacks were often found in these patients. The disorder has some similarities to the syndrome of infantile copper deficiency. Like the latter it is particularly common in preterm infants and in twins. Therefore, we are attempting to examine the incidence of significant hypocupraemia in unselected preterm infants. We suggest that the likely cause of this "temporary brittle bone disease" is a temporary deficiency of an enzyme, perhaps a metalloenzyme, involved in the post-translational processing of

Posted: Mon Mar 13, 2006 9:43 am
by Dazeemay

From a trial in upstate NY...

Testimony was made that metaphyseal fractures by themselves are fairly common minor occurances that mean very little unless there are OTHER indications of physical abuse (shaken baby) and in that case the meta fxs could have been caused by the shaking. Again, absent some other strong indications of shaken baby, meta fxs (frequently undiagnosed) mean little and usually have no long term consequences.

You should know that humans have approx 200 bones in their body, but at birth the number of bones is over 300.

The reason for this is the knobby ends of many long bones aren't attached yet!

Careful with that baby!

As we learned in another case, many preemie babies are born with a lack of calcium simply because they haven't gone full term. And to make matters worse the hospitals frequently prescribe medications for these infants that have a side effect of decreasing the absorbtion of calcium. So they do have TEMPORARY BBD and will grow out of it over time... a self resolving problem the Drs call it.

Meaning a baby could have brittle bones for the first few months of life, break a bone, and that lack of calcium not be detected because by the time CPS has agreed (if they ever do) to test for a lack of calcium... the problem has resolved itself.

Posted: Mon Mar 13, 2006 9:44 am
by Dazeemay ... 007231.htm

Osteopenia means a decrease in the amount of calcium (Ca) and phosphorus (P) in the bone. This can cause bones to be weak and brittle, and increases the risk for fractures.

Causes, incidence, and risk factors

During the last 3 months of pregnancy, large amounts of Ca and P are transferred from the mother to the baby for bone growth. If your baby was born prematurely, he or she may not receive the required amounts of Ca and P to properly form strong bones. Despite being fed breast milk with supplements or the use of special formulas, your premature infant receives much less calcium and phosphorous than if he was still in the womb.

If your baby requires long-term IV nutrition, even less Ca and P will be received than from formula feedings. An added problem is that very premature babies lose much more phosphorus (P) in their urine than do term infants. If your baby is on diuretics (“water” drugs such as furosemide or “lasix”) or steroids he may also lose more calcium (Ca) in the urine than normal.

Vitamin D helps with the absorption of Ca from the intestine and kidney. If babies do not receive or make enough vitamin D, they will be unable to properly absorb calcium and phosphorous. In most premature babies, too little Vitamin D is not the problem, the problem is inadequate intake or excessive loss of Ca and P. However, if your baby has a liver problem know as “cholestasis,” he may have problems with inadequate Vitamin D.

Physical activity is also very important to the development of strong bones. While in the womb, fetal activity increases during the last 3 months of pregnancy and this activity is thought to be important for bone development. Most very premature infants have limited physical activity, which, along with decreased Ca and P, may contribute to weak bones.


Most premature infants less than 30 weeks gestation have some degree of osteopenia, but will not have any physical indication of this. Infants with severe osteopenia may have evidence of decreased movement or swelling of an arm or leg due to an unknown fracture.

Signs and tests

Osteopenia is more difficult to diagnose in premature infants than in adults. The most common tests used to diagnose osteopenia of prematurity include:

X-rays: Your doctor will look for evidence of thin bones or fractures.
Blood tests: Your doctor may monitor levels of Ca and P in the blood. Also a specific protein in the blood called “Alkaline Phosphatase” may be measured – very high levels suggest that osteopenia is present. Newer tests are being investigated to monitor osteopenia including ultrasound and special x-ray absorption devices.


The best treatment is prevention. This may be difficult to achieve if your baby is very immature (less than 28 weeks). Therapies that appear to improve bone strength include:

Give extra Ca and P supplementation to breast milk. Use specially formulated premature formulas when breast milk is not available. Maximize the intake of Ca and P in IV nutritional fluids. Early initiation of a daily physical activity program may be helpful. If your baby has liver problems, additional Vitamin D supplementation may be needed.

Expectations (prognosis)

If your premature baby has a fracture it will usually heal with use of a splint on the broken bone, gentle handling, and increased attention to dietary intakes of Ca, P, and Vitamin D. There may be an increase risk for fractures throughout the first year of life for very premature infants with osteopenia of prematurity.

Posted: Mon Mar 13, 2006 9:46 am
by Dazeemay

From an email I rec'd last night.



Accordingly, the petitions to the extent that they seek a finding of abuse are dismissed for lack of proof by the required preponderance of the evidence. The petition seeking a finding of severe abuse is likewise dismissed for lack of proof by clear and convincing evidence As to the remaining neglect based on the totality of the evidence and for the reasons set fort above the court dismisses the neglect petitions.

Furthermore it does not appear that the aid of the court is needed to further protect the health and well-being of respondents children. Accordingly the court dismisses all pending petitions directs that (our daughter) be returned to respondents care and terminates (her) placement in foster care and terminates supervision of respondents by dss.

In accordance with family court act 1112 (the child) shall be returned to her parents on or before 5pm Friday November 14 2003


The best witnesses CPS had were,

1) two radiologists who made their "professional" diagnoses by reading x-rays (never having examined the child)... and their testimony being that the broken arm couldn't have been caused by anything but abuse. There may or may not have also been metaphyseal fractures, but these radios claimed these disputed fxs were caused by shaken baby syndrome.

2) their TOP GUN doctor testified (also never having examined the child) that the best he could determine was that there was a 30% possibility that the parents were responsible for the broken arm. He also testified that the metaphyseal fractures (that may or may not have existed) could have been caused in utero or by the hospital personnel as they took the babies measurements at birth.

The one doctor that the County Attny failed to call as a witness was the original doctor who examined the child when she was brought in with the broken arm.

He was called by the defense.

He testified that there were no indications as he examined the child that day of any fxs other than the arm referring to the metaphyseal fxs. He testified that he made the report to the CPS hotline as he is required to by law. He also testified that it was his professional opinion based on his examination that the broken arm was caused accidentally.

This doctor testified that he makes about 50 CPS reports of spiral fractures a year and only a very few ever turn out to be non-accidental.


The family is suing CPS and the County.

Later, Dan

Posted: Mon Mar 13, 2006 9:47 am
by Dazeemay
The Lesson of Temporary Brittle Bone Disease:

All Bones Are Not Created Equal

-Marvin E. Miller, M.D.
Wright State University School of Medicine
Department of Pediatrics

BONE Manuscript # 03-01-00010
Revision #2 – submitted on June 2, 2003
Accepted for publication: June 9, 2003

Address: Marvin E. Miller, M.D.
Children’s Medical Center
1 Children’s Plaza
Department of Medical Genetics
Dayton, Ohio 45404

Phone: (937) 641-5374

Fax: (937) 641-5325

e-mail: [email protected]


Temporary brittle bone disease (TBBD) is a recently described phenotype of multiple, unexplained fractures in the first year of life, and predominantly in the first 6 months of life. There is usually no other injury such as bruising, subdural hematomas, retinal hemorrhages, or other internal organ injury. The susceptibility to fracture is transient, and there are no other radiographic or biochemical abnormalities noted in the standard evaluation that might suggest an underlying cause. The child abuse and pediatric
radiology communities have, for the most part, been unwilling to accept this as a real condition, for they believe it is a ruse for child abuse. This review describes the experience of the author in evaluating infants with multiple unexplained fractures and the hypothesis that has emerged for explaining TBBD. The hypothesis is a prenatal application of the mechanostat/bone loading theory of bone formation and states that TBBD is caused by fetal immobilization which leads to fetal bone unloading and transient, relative osteopenia. Such susceptible infants can fracture with
routine handling and present with a pattern of fractures that is similar to that which has been thought to be highly specific for child abuse. The review presents: 1) the evidence that indicates that normal fetal movement is important for normal fetal bone strength, 2) a critique of the radiologic approach in the diagnosis of child abuse in infants with multiple unexplained fractures, 3) observations that would indicate that child abuse is unlikely in infants with TBBD, and 4) new approaches to the infant with
multiple unexplained fractures that would assist in accurate diagnosis.

KEY WORDS: temporary brittle bone disease
child abuse
bone loading
fetal immobilization
Utah paradigm

The Issue: Unexplained Fractures in Infancy and TBBD
The infant who presents with multiple unexplained fractures poses a diagnostic conundrum, and the final diagnosis will have lifelong social implications for the infant and the parents/caregivers. The interpretation of the plain X-ray is often the single most important determinant in the disposition of cases of infants with multiple unexplained fractures. The radiologic findings of metaphyseal fractures, posterior rib fractures, and multiple fractures at different ages of healing are thought to be highly specific for child abuse.1,21 When these radiologic findings are observed in the setting of 1) no antecedent history of trauma, 2) apparent normal bone density by plain radiograph, 3) no radiographic evidence of metabolic bone disease such as is seen in rickets, and 4) no biochemical evidence of bone disease with normal serum calcium, phosphorus, and vitamin D studies, and normal collagen studies from skin fibroblasts, then it is highly likely that the final diagnosis will be child abuse. This may occur even though the parents and other caregivers deny intentionally inflicting harm on the infant, and even though the risk profile of these individuals for committing
child abuse is low.5 With society’s ultimate goal of protecting helpless infants from potential harm, it is understandable that the medicolegal system has taken the approach of removing these infants from their parents and other caregivers until a complete evaluation of the situation can be done. The medicolegal approach to the infant with multiple unexplained fractures makes a very important assumption. Except for infants with rare genetic bone disorders associated with brittle bones, it is assumed that
apparently normal infants all have similar bone strength, and that if such an infant incurs multiple unexplained fractures, the forces to cause these fractures must have been significant and likely inflicted.

Until recently no one took exception to this approach. However, this is now a charged and hotly debated issue. In 1993 Colin Paterson described a series of infants with multiple unexplained fractures in which parents and caregivers denied intentional injury.39 The x-rays of these infants often had the radiologic features mentioned above that are thought to be pathognomonic of child abuse, and the infants had normal biochemical
evaluations that revealed no evidence of bone disorders such as osteogenesis imperfecta or rickets that might explain the fractures. Paterson called this entity “temporary brittle bone disease” (TBBD) and suggested it is a transient state of increased fracture susceptibility, predominantly during the first year of life, that most likely has a biological cause and not a social one. He has rightfully pointed out that it is difficult to envision child abuse in infants with up to 30 fractures at different stages of healing who have been seen by health care providers on multiple visits in the past and who have no evidence of bruising that one would think would be
present with such a multitude of fractures.

Paterson hypothesized that copper deficiency might be the cause of TBBD as infants with copper deficiency had previously been described with a phenotype similar to TBBD39. Copper deficiency can cause a brittle bone state that can mimic child abuse and was at one time caused by inadequate provision of copper in the diets of premature infants.40 However, Paterson was unable to demonstrate evidence of decreased serum copper concentrations
in infants with TBBD.

Paterson has had vocal critics who maintain that TBBD is merely a ruse for child abuse, that the reason the fractures disappear is that the infant is removed from the care of those inflicting the physical injuries, and that no biological explanation for TBBD has been demonstrated.2,7,21,47,50 Such cases often lead to legal proceedings in both civil and criminal courts where the defense uses the diagnosis of TBBD as their explanation for the fractures, and the prosecution maintains this is child abuse and felonious
assault. Are these deceptive parents who have maliciously designed a way of repeatedly injuring the bones of their child without leaving any telltale traces of injury to the skin? Or is the deception in our not appreciating some elusive biological cause of bone weakness in young infants that leads to these fractures? My own personal experience suggests the latter.29,30

Personal Experience
Since February, 1994, I have been referred infants with multiple,
unexplained fractures for clinical evaluation in which child abuse was suspected, but the parents and other caretakers denied intentional injury. In 1999 we described our initial experience in 33 such infants - 26 had a phenotype consistent with TBBD, 5 had evidence of child abuse, and 2 had osteogenesis imperfecta.29 The 26 infants with TBBD presented in a narrow window of time between 3-18 weeks of age. The criteria for the diagnosis of
TBBD was the following:
1) parents and caregivers denied wrongdoing
2) there were no apparent episodes of trauma to explain the fractures
3) there was no external skin injury such as bruising at the time of
presentation or at prior health care visits
4) evaluation revealed no other evidence of systemic findings that
would suggest child abuse – no retinal hemorrhages, no subdural hematomas,
and no visceral organ injury
5) radiographs show no evidence of metabolic bone disease such as rickets
6) laboratory studies evaluating for metabolic bone disease such as serum calcium and phosphorus and collagen analysis to evaluate for osteogenesis imperfecta are normal.
To obtain an objective measure of the bone strength of these infants, I measured bone density in TBBD infants using both radiographic absorptiometry and the highly sensitive method of peripheral, quantitative computed tomography. This was the first time formal bone density measurements were obtained in infants with multiple unexplained fractures, and the results were striking. When compared to controls of a similar age, the TBBD infants
had lower bone density.29 This observation was in spite of the fact that the plain radiographs of these infants with TBBD were interpreted by the radiologist as showing apparent normal bone density

The Hypothesis:
Fetal Immobilization Causes a Temporary Brittle Bone State
But if these infants with TBBD truly have a lower bone density, what is the basis of it? The clue came from the pregnancy histories.29 There was a striking association between TBBD and pregnancy histories of decreased fetal movement with intrauterine confinement. The causes of the intrauterine confinement included cephalopelvic disproportion, twinning, oligohydramnios, large maternal uterine fibroids, and maternal structural uterine anomalies.
There was also an increased frequency of deformations (structural birth defects of the musculoskeletal system such as clubfoot and dislocated hips) and short umbilical cords in the TBBD infants which is also consistent with decreased fetal movement and intrauterine confinement.15,28

The association of decreased fetal movement and intrauterine confinement with TBBD suggests a plausible explanation for TBBD, namely that intrauterine confinement with decreased fetal movement leads to reduced fetal bone loading with decreased fetal bone strength. Frost has recently proposed the mechanostat/mechanical loading theory of postnatal bone
formation which states that the primary determinant of bone strength is the load placed on the bone as shown in Figure 1.12,13 The load causes a strain in the bone which the bone is able to perceive through the mechanostat, and the bone responds to this by accordingly increasing or decreasing bone strength. The mechanostat is a feed-back system within the bone that can
receive the input of strain, evaluate and compare the strain to preset threshold values, and bring about appropriate signals to the effector cells, osteoblasts and osteoclasts. When there is an increased load placed on the bone, the mechanostat signals the biochemical machinery of the effector cells to increase bone strength. When there is a decreased load placed on the bone, the mechanostat signals the biochemical machinery of the effector
cells to decrease bone strength. Bone strength can be modified by changes in bone density and/or bone architecture. The cells that are signaled by the mechanostat to carry out the appropriate changes in bone density and architecture are the osteoblasts and osteoclasts.

There are two types of bone loading. The first is associated with the direct impact of bone against another object such as the increased load the leg bones realize during running. Individuals who participate in physical activities associated with impact such as soccer and running have greater bone strength than controls; whereas individuals who are placed in environments associated with decreased loading such as astronauts in the prolonged microgravity of space travel have decreased bone strength than
controls. The second is associated with the active and passive load the bone realizes from the muscles attached to it. The muscles that attach to a bone exert a small but continuing load on the bone even when the muscle is not actively moving the bone. Forceful muscle contractions promote bone strength. Weightlifters have greater bone strength than non-weightlifters and individuals with neuromuscular diseases such as Duchenne muscular
dystrophy or quadraplegics with longstanding immobilization have lower bone strength than controls.18

While the Utah paradigm has been applied to older children and adults, it also has relevance to the prenatal and immediate postnatal time periods. The application of this contemporary model of bone physiology to these time periods provides a simple and plausible explanation for TBBD, namely that fetal immobilization can lead to a transient state of bone brittleness in the early months of infancy. Several observations support this.

First, Rodriguez et al. has shown that infants with congenital neuromuscular disease in which there is both decreased fetal movement and decreased fetal muscle mass and function have diminished bone formation.44,45 Second, Rodriguez et al. have also described an experimental model of drug induced fetal immobilization in rats with tubocurarine which causes diminished bone formation and has been called the fetal akinesia deformation sequence.46 I have seen 3 infants with TBBD who were born to mothers who were taking similar drugs during the third trimester that cause decreased fetal movement.32 Noteworthy is that in the Rodriguez studies of both the human and rat, the fetal immobilization resulted in decreased bone diameter. In growing long bones most of the formation occurs on the outside of the bone (periosteum), while most of the resorption occurs on the inside of the bone (endosteum). Thus, the Rodriguez studies indicate that fetal immobilization causes reduced periosteal bone formation.

Third, the recently described MyoD/Myf5 double knockout mouse in which mice are bred who lack the important muscle proteins MyoD and Myf5 underscores the influence of fetal bone loading through fetal movement on intrauterine bone development.48 Compared to the wild type mouse, the MyoD/Myf5 double knockout mouse has: 1) smooth, featureless, and straight long bones, 2) thinner cortices by 19%, 3) decreased mineralization by 24%, and 4) absent ribs and medial parts of the clavicles. Osteoblast isolated from both the wildtype and the MyoD/Myf5 double knockout mouse were identical in their ability to respond to mechanical loading stimuli.

In the experimental animal and the human the response of bone to loading is dependent on the magnitude of the strain applied to the bone as well as the frequency of the strain (number of cycles/day).9,24 In the immature rat jump training with as little as 5 jumps/day for 8 weeks results in increased bone mass and strength in the tibia and femur.49 These observations suggest
that only a few peak loads/day are needed to promote bone formation in the long bones of growing animals.

If the above observations are applied to the fetus during intrauterine life, then it is apparent that there is considerable loading of the fetal skeleton through fetal movement. In normal human pregnancies fetal movement is consistently perceived by pregnant mothers beginning at about 16 weeks of gestation and is exuberant until term, the number of fetal movements perceived at 24-26 weeks gestation is about 54 movements/hour, and the fetus
is active some 9-18% of the time.43 Thus, there is a relatively long period of some 24 weeks of relatively high frequency bone loading of the fetal skeleton through movement against the resistance of amniotic fluid, kicking against the uterine wall, and from muscle contractions. This fetal activity is critical for normal fetal bone loading which leads to normal bone strength of the fetus and the newborn at the time of delivery. Attenuation of this fetal bone loading for whatever reason (intrauterine confinement, maternal use of medications during pregnancy that cause fetal
immobilization, or prematurity) will lead to a relatively weaker fetal and newborn skeleton that has a greater propensity to fracture with a given physical force.

The primary reason that TBBD has been overlooked as a distinct medical entity is that it is not associated with any measured biochemical abnormalities or radiographic abnormalities until there is significant lack of net gain in bone mass. This is similar to the pattern of biochemical and radiologic findings in disuse osteopenia.18

Revisiting the Radiologic Dogmas of Child Abuse
The plain radiograph has traditionally been used by radiologists and child abuse experts as a test which provides reliable information about bone strength. Bone strength is determined by bone density and bone architectural parameters. Typically, bone strength is given in terms of the load needed to cause the bone to fail (fracture). A failure load can be determined by standard mechanical equations for a bone loaded in compression, tension,
torsion, or bending. For example, the failure load for a bone of circular cross-section, loaded in bending (Bf), is given by the following equation:25
Bf = (I/Rp)sbs
Bf = failure load in bending
I = cross-sectional moment of inertia = (p/4)(Rp4 – Re4)
Rp = periosteal radius
Re = endosteal radius
sbs = bending ultimate stress coefficient (an empirically determined
constant of material property of the bone that is directly related to
bone density)
Bf = (p/4) (sbs) (Rp4 – Re4)/Rp
This equation indicate that the strength of a bone in bending is related to the bone density (through sbs), the periosteal radius, and the endosteal radius. However, the radiographic report on the standard set of skeletal X-rays taken for the purpose of a child abuse investigation for unexplained fractures typically provides none of these measurements. Bone density is directly related to sbs, but it is difficult for a plain radiograph to assess bone density, because of the insensitivity of the human eye to judge small changes in optical film density. Rp and Re can be measured in
radiographs directly; however, these measurements are typically not performed and reported. Moreover, small reductions in Rp that might be difficult to measure can have a great influence on Bf, because Bf is related to Rp raised to the fourth power. Yet, the diagnosis of child abuse is often made based on such normal appearing X-rays. Normal appearing X-rays do not necessarily mean normal strength bones, because there is typically no
objective evaluation of bone density or bone architectural parameters.

It is important to emphasize that the low bone density measurements found in TBBD infants had apparent normal bone density (whiteness) on the plain radiographs. For the eye to detect decreased bone whiteness on a plain radiograph, there must be greater than a 30% loss of bone density.8,22 Thus,
a 30% loss of bone density might not be appreciated as being abnormal on the plain radiograph, even though it would be associated with a marked increase in fracture risk.

If one accepts the fact that the plain radiograph is inadequate to detect the biomechanically induced osteopenia of TBBD, then it is understandable why infants with TBBD have the radiographic features thought to be highly specific for intentional injury - metaphyseal fractures, posterior rib fractures, and multiple fractures of different ages. These 3 findings could be expected from routine handling of an infant with brittle bones as a result of fetal/perinatal immobilization.

First, the metaphysis of the infant is the weakest structure of the
musculoskeletal system. It contains a large proportion of growing,
non-mineralized bone. The metaphysis is primarily trabecular bone, and the trabecular bone density of infants is significantly lower than that of older children or adults.33 The metaphysis will therefore be the first structure to yield if a twisting force is applied to an extremity of an infant. The twisting of an extremity in an infant who has normal-strength bones may require a force that would only be seen in nonaccidental injury. However, if the infant has an intrinsic bone disease with brittle bones, a metaphyseal
fracture of an extremity could result from routine handling of the infant such as in the changing of diapers or of clothing. Helfer et al. found metaphyseal fractures could be produced by passive range of motion exercises of the legs in 4 infants with presumed intrinsic bone disease, 3 of whom were premature.19 Grayev et al. described 8 infants with clubfeet who incurred metaphyseal fractures during physical therapy treatment of the clubfeet when their legs were passively manipulated and in which at least 3 had evidence of prenatal onset of decreased fetal movement.16 Clubfeet are most often caused by intrauterine confinement, and this observation indicates that the relatively insignificant forces associated with physical therapy may cause metaphyseal fractures in an at risk group of infants who experienced fetal immobilization.34 These combined observations indicate
that metaphyseal fractures are not pathognomonic of child abuse and decreased fetal movement and prematurity may predispose to such fractures.

Second, posterior rib fractures in child abuse are thought to result from thoracic compression in normal strength ribs which causes the rib to be levered over the fulcrum of its transverse process.21 However, if the ribs were weak from intrinsic bone disease and a routine compressive force was applied to the thoracic cage, such as in the normal picking up of the infant around the chest, a posterior rib fracture would also be the most likely type of rib fracture, since this is the biomechanically weakest segment of
the rib. Iatrogenic, posterior rib fractures have been described in large infants following vaginal delivery and in young infants after chest physiotherapy for respiratory disease.6,23

Third, the multiple fractures at different stages of healing also follows from this line of reasoning. Routine handling of the infant with biomechanically-induced osteopenia at multiple different times could produce any of a number of different types of fractures of various bones.

Physical Forces that Can Cause Fractures in TBBD
I believe fractures in an infant with TBBD might occur with physical forces from the routine handling of the infant. This includes the birth process, changing of clothes and diapers, picking the infant up around the chest, playing with the infant, using bicycle movements and exercises, and iatrogenic fractures from medical procedures/maneuvers such as performing a hip examination, holding for lumbar puncture and venipuncture, and performing physical therapy.19,16,34,23,6,16,31

No individual can reliably testify to the magnitude of forces needed to produce a fracture unless they know the strength of the bone. A plain radiograph cannot reliably assess bone strength. This is the flawed line of reasoning that has been used to incorrectly diagnose child abuse in some cases of infants with multiple unexplained fractures. In such cases a high reliance is usually placed on the radiologist’s interpretation that the bones have normal bone density, there is no evidence of metabolic bone
disease, and thus the only other reasonable explanation is that this is child abuse. The utilization of more objective bone density measurement technologies such as DEXA and peripheral quantitative computed tomography in the evaluation of infants with unexplained fractures can provide more meaningful information in trying to judge a cause of the fractures.42
However, even with these techniques there are limitations, if there are not appropriate age and size- matched controls.38

Prematurity and TBBD
Prematurity has a strong association with TBBD.39,29 It is well-known that premature infants are at increased risk to develop a temporary brittle bone state, and it has traditionally been thought that the primary cause of this was insufficient calcium and phosphate in the diet of the premature infant. However, there is emerging evidence that the bone disease of prematurity may
be more of a biomechanical issue than one of nutritional mineral
deficiency.35 First, premature infants fed formulas that contain higher concentrations of calcium and phosphate often have no increase in bone density.11 Second, there is increased bone resorption in the bone disease of prematurity which would indicate some other explanation for this condition, other than lack of mineral availability.4,36

It is suggested that this increased bone resorption in the markedly
premature infant compared to the term infant is secondary to decreased bone loading. During the last trimester the fetus is actively kicking and bouncing against the mother’s uterus. This fetal activity with associated muscle development is the primary determinant of fetal bone formation. The intrauterine loading of the fetal musculoskeletal system activates the mechanostat to increase bone strength by modulating bone formation and
resorption as shown in Figure 1. Fetal movement also promotes muscle growth which contributes to bone loading. Conversely, when an infant is born markedly premature, the infant is deprived of much of this musculoskeletal bone loading in utero. After birth, the markedly premature infant is often hypotonic and has a poverty of movements compared to the term infant.20
Thus, there is also postnatal modulation of the mechanostat to increase bone resorption in the very low birthweight (VLBW), premature infant compared to the term infant.

Moyer-Mileur et al. have shown that preterm infants who receive 5-10 minutes of daily physical activity realize a 76% greater gain in bone density by one month of life compared to control premature infants who receive no physical activity.37 This finding explains the observation that very sick premature infants who are on ventilators and require parenteral nutrition have a much greater frequency of bone fractures compared to premature infants who can take oral feeds and are not on ventilators.3,10 Healthy premature infants who are picked up and gently handled by caregivers for oral feedings and for nurture receive bone loading similar to what physical therapy might provide.

Noteworthy is that the pattern of fractures in VLBW, premature infants is similar to that in child abuse and in TBBD.3,10 Metaphyseal fractures, rib fractures, and fractures of various ages can be seen in the bone disease of prematurity. Because these infants are hospitalized in a newborn intensive care nursery (NICU), the diagnosis of child abuse is not made, but rather a
term is used to indicate an intrinsic bone disorder that has a biologic cause (bone disease of prematurity, rickets of prematurity, and others) and not a social one (child abuse and nonaccidental injury). However, if such an infant is discharged from the NICU and fractures are first noted following discharge from the NICU child abuse will certainly be considered. Such an infant would probably have the phenotype of TBBD. The fractures of the bone disease of prematurity usually occur at about 3 months of age, a similar time as when TBBD often presents.

The Transient Nature of TBBD The most perplexing issue of TBBD has been to explain its transient nature of fracture susceptibility during the first year of life. If prematurity and fetal immobilization related to intrauterine confinement are the primary determinants of TBBD, then it follows that the fracture susceptibility in the immediate postnatal period would be transient. Once the infant who was gestated in an environment of intrauterine confinement is born, the intrauterine confinement ceases, the mechanostat is activated for increasing bone strength, and bone strength begins to normalize. However, there is a window of time of approximately the first year of life, and especially in the first 6 months of life, when the infant’s bones are weaker and thus at increased risk to fracture. Likewise, the biomechanical effect of prematurity on bone formation is also transient as the premature infant begins to experience more bone loading later in the first year of life from
spontaneously moving and from being handled by caregivers.35

A markedly premature infant who was also confined, such as occurs in twinning, would thus have two significant factors which could decrease bone formation. Twins are over-represented in infants with multiple unexplained fractures who have a TBBD phenotype compared to their frequency in the general population.29,39

Evidence that TBBD is Not Child Abuse
Paterson has recently presented follow up of 96 infants who presented with multiple unexplained fractures and who were thought to have been abused but in whom he diagnosed TBBD.41 The future care of these infants was determined by civil proceedings and 65 infants were returned to their parents, 47 with conditions. Follow up of these 65 infants has been for a mean of 4.9 years (range 0-11 years). There has been no evidence of
subsequent child abuse in those infants returned to their parents. I have followed 3 such TBBD infants who were returned to their parents. Each child has been with their parents for about 5 years, and there has also been no evidence of child abuse in these 3 children.

Another compelling observation that TBBD is a distinct entity from child abuse is the conspicuous absence of significant bruising, swelling, or other severe internal injury. Physical trauma in most infants that causes a
fracture is strongly associated with bruising and other internal,
non-skeletal injury.27 When a child incurs a fracture caused by physical trauma, there is a probability that the traumatic event will also cause a bruise. Mathew et al. determined the frequency of bruising in children with fractures.26 The frequency of bruising was 8% at the time of presentation and 28% during the first week after the trauma. If there are multiple fractures, then each fracture is an independent event for showing bruising with a probability of 0.28 if observed during the first week after the fracture. Thus the likelihood that an infant who incurs a fracture will not have a bruise if observed during the week after the injury is .72. An infant
who incurs 15 fractures from alleged child abuse and has been evaluated during multiple health care visits would thus have a probability of (0.72)15 = .007 of not having a single bruise, a very unlikely scenario that should cause us to pause for alternative explanations. A more likely explanation for 15 fractures in the setting of no bruising and no internal injury is that there was no significant trauma to cause the fractures.

Garcia et al. found that in infants who have normal strength ribs and incurred multiple rib fractures from trauma (either from child abuse or from motor vehicle accidents), there is almost always internal thoracic injury.14 These combined observations about bruising and internal injury in the setting of rib fractures are indirect evidence for the existence of TBBD. When infants with multiple fractures have no other injuries, either bruising or internal injury, an alternative explanation of an intrinsic bone disorder
should be considered.

Finally, the presentation of infants with TBBD in the narrow time period which peaks at about 2 months of age is consistent with an etiology of fetal/perinatal onset. If TBBD were truly a guise for child abuse, it would be expected that there would be a similar frequency of TBBD in infants who were 6-24 months of age, and it is uncommon to find infants in this age group with TBBD.29

Table 1 compares characteristics of child abuse versus TBBD, and Table 2 summarizes the evidence that TBBD is not child abuse.

Except for individuals with rare genetic disorders associated with brittle bones such as osteogenesis imperfecta and for markedly premature infants who receive inadequate calcium and phosphate in their diets, it has been assumed that all neonates and infants are equal in their bone strength and propensity to fracture. This assumption is the foundation for concluding that infants with multiple unexplained fractures are victims of child abuse, until proven otherwise. However, the evidence presented herein suggests that all bones are not created equal” and that a previously unappreciated factor in understanding bone strength and fracture susceptibility in the infant is the prenatal and immediate postnatal bone loading on the skeleton. Situations which result in fetal immobilization such as intrauterine confinement and prenatal-onset neuromuscular diseases, and in relative immobilization in the immediate postnatal period such as in marked prematurity can produce a state of transient bone weakness.

Table 3 compares the 5 perinatal, brittle bone states which have been previously discussed: 1) the fetal akinesia deformation sequence in the rat (FADS), 2) the MyoD/Myf5 double knockout mouse (Null) 3) congenital neuromuscular diseases in the human (CNMD), 4) bone disease of prematurity in the human (BDP) and 5) temporary brittle bone disease in the human. Noteworthy is the similar types of fractures that can be seen in these conditions and the common underlying cause of fetal/perinatal immobilization
in all 5 conditions. FADS, Null, and CNMD are the most severe phenotypes of fetal immobilization, as they have evidence of osteopenia at birth by X-ray and histomorphometry. Infants with CNMD have fractures at birth, presumably from having intrauterine fractures or fractures from the delivery process. Infants with BDP or TBBD can have fractures at birth, but these more typically present in the first several months of life.

This hypothesis that fetal immobilization can lead to a transient state of bone fragility in the first months of life has been and will likely continue to be met with skepticism by the pediatric radiology and child abuse communities. However, when this hypothesis is considered in the context of our current knowledge of bone physiology as posited in the Utah paradigm, it is plausible and reconciles many of the observations about TBBD as presented
in Table 2.

If TBBD does exist, then the grim and sober reality of TBBD is that some parents have wrongly had their children taken from them, and some adults have been unjustly imprisoned for alleged acts of child abuse they did not commit. The time that these parents were forced to spend away from their children is irretrievable. Because the stakes in these cases are extraordinarily high with devastating, lifelong consequences, it is critical that those involved in child abuse allegations of infants with multiple unexplained fractures consider this hypothesis and test it with their own
experiences, both retrospectively and prospectively. The measurement of quantitative bone density and bone architecture parameters such as cortical bone width, periosteal diameter, and endosteal diameter, in which there are adequate age-matched controls for these measurements, may provide needed
information to further clarify this controversial issue.


1. Ablin DS, Greenspan A, Reinhart M, and Grix A. Differentiation of child abuse from osteogenesis imperfecta. AJR 154:1035-1046; 1990.

2. Ablin DS and Sane SM. Non-accidental injury: confusion with temporary brittle bone disease and mild osteogenesis imperfecta. Pediatr Radiol 27:111-113; 1997.

3. Amir J, Katz K, Grunebaum M, Yosipovich Z, Wielunsky E. and Reisner H. Fractures in premature infants. J Pediatr Orthop 8:41-44; 1988.

4. Beyers N, Alheit B, Taljaard JF, Hall JM, Hough SF. High turnover
osteopenia in preterm infants. Bone 15:5-13;2; 1994.

5. Cadzow SP and Armstrong KL. Stressed parents with infants: reassessing physical abuse risk factors. Child Abuse and Neglect 23:845-853; 1999.

6. Chalumeau M, Foix-l’Helias, Scheinmann P, Zuani P, Gendrel D,
Ducon-le-Pointe. Rib fractures after chest physiotherapy for bronchiolitis or pneumonia in infants. Pediatr Radiol 32: 644-647; 2002.

7. Chapman S and Hall CM. Non-accidental injury or brittle bones. Pediatr Radiol 27:106-110; 1997.

8. Colbert C. The osseous system. Invest Rad 7: 223-232; 1972.

9. Cullen DM, Smith RT, and Akhter. Bone-loading response varies with strain magnitude and cycle number. J Applied Phsiol 91: 1971-1976; 2001.

10. Dabezies E and Warren PD. Fractures in very low birth weight infants with rickets. Clinical Orthopaedics and Related Research 335:233-239; 1997.

11. Farek J, Petersen S, Peitersen B, Michaelsen KF 2000 Diet and bone mineral content in term and premature infants. Pediatr Res 47:148-15; 2000.

12. Frost HM. Perspectives: A proposed general model of the mechanostat (suggestions from a new paradigm). Ana Rec 244:139-14; 1996.

13. Frost HM. Muscle, bone, and the Utah Paradigm: a 1999 overview. Med Sci Sports Exer 32: 911-917; 2000.

14. Garcia et al. Rib fractures in children: A marker of severe trauma. J Trauma 30:695-700; 1990.

15. Graham J. Smith’s Recognizable Patterns of Human Deformation. Second edition, WB Saunders, Philadelphia, 1988.

16. Grayev, AAM, Boal DKB, Wallach DW, and Segal LS. Metaphyseal fractures mimicking abuse during treatment for clubfoot. Pediatr Radiol 31:55-563; 2001.

17. Habert J, Haller JO. Iatrogenic vertebral body compression fractures in a premature infant caused by extreme flexion during positioning for a lumbar puncture. Pediatr Radiol 30:410-411; 2000.

18. Hangartner TH. Osteoporosis due to disue. Physical Medicine and Rehabilitation Clinics of North America 6:579-594; 1995.

19. Helfer RE, Scheurer SL, Alexander R, Reed J, and Slovis TL. Trauma to the bones of small infants from passive exercise: A factor in the etiology of child abuse. J Ped 104:47-50; 1984.

20. Kakebeeke TJ, von Siebenthal K Largo RH. Differences in movement quality at term among preterm and term infants. Biol. Neonate 71:367-378; 1997.

21. Kleinman PK. Diagnostic Imaging of Child Abuse. Second Edition. Mosby, St. Louis; 1998.

22. Lachman E. Osteoporosis: The potentialities and limitations of its roentgenological diagnosis. Am J Roentgenol 74:712-715; 1955.

23. Landman L, Homburg R, Sirota L, Dulizky F. Rib fractures as a cause of immediate neonatal tachypnea Eur J Pediatr 144:487-488; 1986.

24. Margulies JY, Simkin A, Leichter I, Bivas A, Steinberg R, Giladi M,
Stein M, Kashtan HMC. Effects of intense physical activity on the
bone-mineral content of the lower limbs of young adults. J Bone Joint Surg Am 68:1090-1093; 1986.

25. Martin RB, Burr DB, and Sharkey NA. in Skeletal Tissue Mechanics Springer, New York, pages 127-137; 1998.

26. Mathew MO, Ramamohan N, Bennet GC. Importance of bruising associated with paediatric fractures: prospective observational study. BMJ 317:1117-1118; 1998.

27. McMahon PM, Grossman W,Gaffney M, Stanitski C. Soft tissue injury as an indication of child abuse. Journal of Bone and Joint Surgery 77-A:1179-1183; 1995.

28. Miller ME, Higginbottom M and Smith DW. Short umbilical cord: Its origin and relevance. Pediatrics 67:618-621; 1981.

29. Miller ME and Hangartner TN. Temporary brittle bone disease: Association with decreased fetal movement and osteopenia. Calc Tissue Intl 64:137-143; 1999.

30. Miller ME. Temporary brittle bone disease: A real entity? Seminars in Perinatology 23:174-182; 1999.

31. Miller ME. Letter to the Editor Another perspective as to the cause of bone fractures in potential child abuse. Pediatr Radiol. 30:495-496; 2000.

32. Miller ME. Temporary brittle bone disease from intrauterine exposure to drugs that cause fetal immobilization. Calcif Tissue Int 70:359; 2002.

33. Miller ME and Hangartner TN. Cortical and trabecular bone density values in normal children measured by pQCT. Calcif Tissue Int 70:374; 2002.

34. Miller ME. Letter to the Editor. Fractures during physical therapy. Pediatric Radiol 32:536-37; 2002.

35. Miller ME. The bone disease of prematurity: A biomechanical perspective. Pediatr Res 53:10-15;2003.
DOI: 10.1203/01.PDR.0000039922.25000.17

36. Mora S, Weber G, Bellini A, Bianchi C, Chiumello G. Bone modeling alteration in premature infants. Arch Pediatr Adolesc Med 148:1215-1217; 1994.

37. Moyer-Mileur, Brunstetter V, McNaught TP, Gill G, Chan GM. Daily physical activity program increases bone mineralization and growth in preterm very low birth weight infants. Pediatrics 106:1088-1092; 2000.

38. Nelson DA and Koo WK. Interpretation of absorptiometric bone mass measuremetns in the growing skeleton: Issues and Limitations Calcif Tissue Intl 65:1-3; 1999.

39. Paterson CR, Burns J, and McAllion SJ. Osteogenesis imperfecta: The distinction from child abuse and the recognition of a variant form. Am J Med Gen 45:187-192; 1993.

40. Paterson CR and Burns J. Copper deficiency in infancy. J Clin Biochem Nutr 4:175-190; 1988.

41. Paterson CR and Monk EA. Long-term follow up of children thought to have had temporary brittle bone disease. Abstract. Presented at the First International Conference on Children’s Bone Health, 1999. Osteoporos Int 11(Supplement 4):S47-S48; 2000.

42. Rauch F and Schoenau E. Changes in bone density during childhood and adolescence: An approach based on bone’s biological organization. J Bone Miner Res 16:597-604; 2001.

43. Rayburn WF. Fetal body movement monitoring. Obstet and Gynecol clinics of North America. 17:95-109;1990.

44. Rodriguez JI, Palacios J, Garcia-Alix A, Pastor I, and Paniagua R.
Effects of immobilization on fetal bone development. A morphometric study in newborns with congenital neuromuscular diseases with Intrauterine onset. Calcif Tissue Int 43:335-339; 1988.

45. Rodriguez JI, Garcia-Alix A, Palacios, J, and Paniagua R. Changes in the long bones due to fetal immobility caused by neuromuscular disease. J. Bone and Joint Surg, 70-A:1052-1060; 1988.

46. Rodriguez JI, Palacios J, Ruiz A, Sanchez M, Alvarez I, Demiguel E. Morphological changes in long bone development in fetal akinesia deformation sequence: An experimental study in curarized rat fetuses. Teratology 45:213-221; 1992.

47. Shaw DG, Hall CM, and Carty H. [Letter to the Editor] Osteogenesis imperfecta: The distinction from child abuse and the recognition of a variant form. Am J Med Gen 56:110; 1995.

48. Skerry TM and Peet NM. MyoD/Myf5 null mice cannot move actively in utero and have thin weak long bones and no rib development. J Bone Miner Res 17:S170,1193; 2002.

49. Umemura Y, Ishiko T, Yamauchi Y, Kuronom, and Mashiko S. Five jumps per day increase bone mass and breaking force in rats. J Bone Miner Res 12:1480-1486; 1997.

50. Wynne J and Hobbs C (commentary) and Carty H (commentary) in response to article by Smith, R “Osteogenesis imperfecta, non-accidental injury, and temporary brittle bone disease.” Arch Dis Child 72:171-1764 ;1995.


The author is grateful to Dr. Thomas N. Hangartner and Shelley Miller for their suggestions and critical review of this manuscript and to the Childrens Medical Center Research Foundation.

Figure 1 illustrates the biomechanical model of bone formation which has been put forth by Frost known as the Utah Paradigm.12,13 While this model recognizes that genetic, nutrient, and hormonal factors are important in bone dynamics, this model presumes that in most situations biomechanical factors are the primary determinant of bone strength. The underlying principle of the Utah Paradigm is that bone has evolved an adaptive,
regulatory, feedback system to keep the strength of the bone in line with the loads placed on the bone. The centerpiece of this model is the mechanostat which resides within the bone and acts as the functional regulator of bone strength. Loads placed on the bone, no matter how small, cause a strain in the bone. Strain is the proportional change in length of the bone caused by a particular load, and its units are thus dimensionless. The mechanostat perceives an input signal of strain and compares it with preset values of strain threshold (ST) for either increasing bone strength (ST-IN) or decreasing bone strength (ST-DE). Bone strength is related to both bone density and bone architecture. If these STs are exceeded, then the mechanostat sends an output signal to the effector cells, osteoblasts and osteoclasts, to respond by appropriately modifying bone density and/or bone architecture, so that the strength of the bone is in line with the load on the bone.

If the bone is placed in a new environment where the load on the bone causes Strain > ST-IN bone, then the mechanostat will send an output signal to the effector cells to increase bone strength. If the bone is placed in a new environment where the load on the bone causes Strain < ST-DE bone, then the mechanostat will send an output signal to the effector cells to decrease bone strength. Bone strength remains unchanged if the load on the bone is
unchanged, or if a new load causes a strain in the bone that does not exceed the STs.

The Utah Paradigm has direct application to bone growth in the fetus and young infant. Bone loading is far greater in the fetus that experiences normal movement compared to the fetus in which movement is compromised and decreased. Normal fetal movement requires an intact neuromuscular system in which the intrauterine environment has normal space availability that allows for normal kicking and movement. Situations that can lead to decreased
fetal movement include intrauterine confinement, maternal use of medications that cause fetal immobilization, prematurity, and neuromuscular disorders that have a prenatal onset.

In growing bone such as occurs in the fetus and young infant, bone loading increases bone strength, in part, through an increase in periosteal thickness as a result of increased osteoblast activity in the periosteum. Bone strength may also be increased by increasing bone density.

Posted: Mon Mar 13, 2006 9:48 am
by Dazeemay

The Lesson of Temporary Brittle Bone Disease:
All Bones Are Not Created Equal

-Marvin E. Miller, M.D.
Wright State University School of Medicine
Department of Pediatrics

BONE Manuscript # 03-01-00010
Revision #2 – submitted on June 2, 2003
Accepted for publication: June 9, 2003


First, the metaphysis of the infant is the weakest structure of the musculoskeletal system. It contains a large proportion of growing, non-mineralized bone. The metaphysis is primarily trabecular bone, and the trabecular bone density of infants is significantly lower than that of older children or adults.33 The metaphysis will therefore be the first structure to yield if a twisting force is applied to an extremity of an infant. The twisting of an extremity in an infant who has normal-strength bones may require a force that would only be seen in nonaccidental injury. However, if the infant has an intrinsic bone disease with brittle bones, a metaphyseal fracture of an extremity could result from routine handling of the infant such as in the changing of diapers or of clothing.

Posted: Mon Mar 13, 2006 9:49 am
by Dazeemay

The child with unexplained fractures

Colin R Paterson

Published in the New Law Journal
1997 volume 147 pages 648 to 652

A recently reported judgement1 has drawn attention to the frequent difficulty attending the diagnosis of the child with unexplained fractures. To many observers the failure of parents to come up with an explanation for fractures found radiologically is ipso facto evidence for non-accidental injury; the lack of explanation must represent a failure to tell the truth about their own or their partners’ actions. However, unexplained fractures in childhood are also the hall-mark of all forms of brittle bone disease and immense harm can be done to families by the inaccurate diagnosis of non-accidental injury.

Much of our research over the last 25 years has related to the clinical aspects of the brittle bone diseases and we hold a database with details of over 1,300 patients. The best known of these is osteogenesis imperfecta which has a prevalence of about one in 10,000 in the United Kingdom. It is caused by abnormalities in collagen, the fibrous protein essential for the mechanical strength of bone. In turn, in most cases, this is now known to be caused by defects in the genes responsible for collagen formation. Since collagen is abnormal in tissues other than bone, patients with osteogenesis imperfecta may have detectable features in addition to fractures. These include blue or grey discolouration of the sclerae (whites of the eyes), discolouration and fragility of the teeth, laxity of joints and an increased tendency to bruising or pinpoint bruises known as petechiae. The bruising is thought to reflect abnormalities in the collagen of small blood vessels. X-rays may show obvious abnormalities but in a majority of patients the appearances are normal at the time of the first few fractures; many of the abnormalities seen later reflect the fractures and the immobilisation used in their treatment. In some cases osteogenesis imperfecta is passed down from a parent to a child, but many cases are ‘sporadic’ with no known family history.

In most patients with osteogenesis imperfecta the diagnosis is made without undue difficulty on the basis of the clinical signs, the fracture history or the family history. In a retrospective survey of 802 known cases of osteogenesis imperfecta in the United Kingdom2 we found that in 691 the diagnosis had been made confidently at birth or at the time of the first fracture. In 96 cases the parents were accused of non-accidental injury on at least one occasion. In 15 cases they had had to contend with case conferences, care proceedings or criminal proceedings.

Over the last 12 years we have identified a distinctive pattern in a minority of patients initially thought to have osteogenesis imperfecta. In this variant, known as temporary brittle bone disease3, the fractures are limited to the first year of life and, to a large extent, the first six months of life. The fracture pattern is often distinctive with rib fractures and fractures at the ends of long bones (metaphyseal fractures) being frequent. These patients may have other features such as vomiting (often projectile) and anaemia. While there is usually no family history of fractures, there is a family history of joint laxity in about two thirds of cases. The cause of the disorder is not yet known but it appears to be more common in twins and infants born before full term.

It is not surprising that both osteogenesis imperfecta and temporary brittle bone disease are often considered in cases in which a child is found to have unexplained fractures. This article summarises a personal experience of cases in which the author prepared a report on the causes of fractures and the likelihood of an underlying bone disease. Since these cases have been studied over some 21 years it has been possible to follow up most of the children concerned for substantial periods.


A database was prepared to include details of each child with information on the mode of referral, the diagnosis reached personally, the legal outcome and the details of the follow-up. Additional clinical information was recorded in each case. The current report is restricted to 128 patients living in the United Kingdom, in whom the major problem was the fractures.


Table 1 shows the source of the referrals. Table 2 shows the diagnosis made by the author in each case. While patients with temporary brittle bone disease were not recognised as such before 1985, it was clear in retrospect that some patients seen earlier had this disorder. Two infants with an initial diagnosis of temporary brittle bone disease were later re-classified as osteogenesis imperfecta in the light of subsequent fractures.

Table 1
Source of medico-legal referrals 1974-96

Parents’ representatives 102
Guardians ad litem 8
Local authority 6
Senior hospital staff 8
General practitioners 3
Police 1


Table 2
Diagnosis of 128 patients referred for the diagnosis of unexplained fractures

Osteogenesis imperfecta 33
Temporary brittle bone disease 65
Vitamin D deficiency rickets 5
Scurvy (vitamin C deficiency) 1
Hypophosphatasia* 1
Accidental injury 9
Unresolved/non-accidental injury 14


* Hypophosphatasia is an uncommon heritable disorder of bone

Of the 105 patients thought to have bone disorders the author provided evidence for care proceedings in 102. Of these infants the eventual outcome was that 78 were returned to their parents (56 initially with conditions), three went to other family members and 21 were removed permanently from their families. In three of these the parents had given up before formal proceedings. In seven families the parents separated; in three because one parent was blamed.

Of the 33 children thought to have osteogenesis imperfecta 25 were returned to their parents. One died later with bronchopneumonia and multiple unexplained gastrointestinal problems. The remaining patients have been followed up for between one and 18 years (total 136 patient-years, mean 5.6 years). There was no evidence of non-accidental injury in this period.

Of the 65 children thought to have temporary brittle bone disease, 48 were returned to their parents. Two died later; one with a cot death and one with late sequelae of birth injury; in neither was non-accidental injury postulated. In 43 of the remaining patients follow-up information was available for between 1 and 11 years (total 248 patient years, mean 5.8 years). There was no evidence of non-accidental injury during this period.

In the whole group of 105 children thought to have bone disease the evidence was rejected judicially in 29 cases and formally accepted in 23. In the remaining cases there was no formal finding for a variety of reasons, most commonly because rehabilitation of the child with the family was agreed without a hearing. Among the 65 patients thought to have temporary brittle bone disease this evidence was rejected in 18 and accepted in 11; in the remaining 36 patients there was no judicial finding. An analysis of the clinical findings in these three groups did not demonstrate any differences in relation to a wide range of clinical features.


Over the last 20 years there has been some reduction in the number of new cases referred in which the diagnosis was osteogenesis imperfecta. Increased familiarity with the clinical features of this disorder has led to more frequent early diagnosis. In the past some of the cases referred to the courts had classical features such as abnormal sclerae or teeth, or had a clearly positive family history which had not been sought2.

However, retrospective study of confirmed cases of osteogenesis imperfecta continues to demonstrate that, in a minority of patients, the diagnosis was extremely difficult at the time of the earlier fractures. Since there may be long fracture-free periods in known cases it is possible to be misled by the lack of subsequent fractures. In one particularly unfortunate family, in which the author was not involved legally, a child was taken into care at the age of 18 months after two fractures. A subsequent fracture did not occur for a further 18 months and the diagnosis of osteogenesis imperfecta was only made at the age of five years when she was returned to her mother. Retrospective study of the medical records and x-rays in this case revealed little evidence that would have helped to make the correct diagnosis at the time.

While such difficult cases are uncommon they occur too frequently in the United Kingdom as a whole to allow for complacency. Our experience in the current series indicates that, where a diagnosis of osteogenesis imperfecta is made and the child is returned to the parents, no evidence of subsequent non-accidental injury has been observed in 136 patient-years of follow-up. In most cases subsequent fractures occurred but mainly at ages at which the child was able to give a clear account of the events.

In recent years it has become possible to identify abnormalities in collagen formation by cells grown in culture from excised samples of skin. With one approach it was claimed that such abnormalities could be demonstrated in over 80 per cent of cases of osteogenesis imperfecta4. Such assays are time-consuming and labour-intensive; they are not widely available. In the past some reports have relied on such methods even in cases in which there was already ample clinical evidence of osteogenesis imperfecta. It is important that the limitations of such tests are recognised.

Temporary brittle bone disease is a much more controversial subject5,6,7. Some of its features as reported by us are those that have been conventionally regarded as typical of non-accidental injury for the last thirty years8,9. However, the evidence that these features, including rib fractures and metaphyseal fractures, are linked to non-accidental injury, is limited. In addition these fractures occur in a wide range of known bone disorders. For example, rib fractures occur spontaneously in known cases of ordinary osteogenesis imperfecta and may occur in utero. Metaphyseal fractures occur not only in osteogenesis imperfecta but also in at least five other bone disorders in the first year of life.

There are four principal types of evidence that support the view that temporary brittle bone disease exists and does not represent misdiagnosed non-accidental injury. First the patients all show striking similarities in their clinical features, the types of fractures, the ages at which they occur, the other symptoms such as vomiting, the other signs such as enlarged fontanelles, and the family history observations. Were these infants not thought to have sustained non-accidental injury they would readily have been recognised as having a distinctive syndrome.

Second, as with ordinary osteogenesis imperfecta, there is often a striking discrepancy between the fractures and other evidence of injury. In typical non-accidental injury bruises greatly outnumber fractures. In this disorder there may be over twenty fractures but reliable evidence that no superficial sign of injury was present at the time when the fractures occurred. Third, the same syndrome occurs in infants in whom non-accidental injury can be excluded with confidence, generally because the fractures occurred while the child was in hospital.

Fourth, the evidence provided in this report emphasises that when these patients were returned to their parents no subsequent evidence of non-accidental injury has been identified in 248 patient-years of follow-up. The premise underlying care proceedings is that abusive parents remain abusive and that there is substantial risk of further non-accidental injury if an abused child is returned. The follow-up findings in this report support the view that, in this small distinctive group of infants with unexplained fractures, the diagnosis was not non-accidental injury.

1 Wall J (1995) Re AB (child abuse: expert evidence). 1 FLR 181.
2 Paterson CR, McAllion SJ (1989) Osteogenesis imperfecta in the differential diagnosis of child abuse. BMJ 299: 1451.
3 Paterson CR, Burns J, McAllion SJ (1993) Osteogenesis imperfecta: the distinction from child abuse and the recognition of a variant form. Amer J Med Genet 45: 187.
4 Steiner RD, Pepin M, Byers PH (1996) Studies of collagen synthesis and structure in the differentiation of child abuse from osteogenesis imperfecta. J Pediatr 128: 542.
5 Smith R, Wynne JM, Hobbs CJ, Carty H (1995) Osteogenesis imperfecta, non-accidental injury and temporary brittle bone disease. Arch Dis Childh 72 : 169.
6 Shaw DG, Hall CM, Carty H (1995) Osteogenesis imperfecta: the distinction from child abuse and the recognition of a variant form. Amer J Med Genet 56: 116.
7 Paterson CR, Burns J, McAllion SJ (1995) Osteogenesis imperfecta variant v child abuse: reply. Amer J Med Genet 56: 117.
8 Carty HML (1993) Fractures caused by child abuse. J Bone Joint Surg 75-B: 849.
9 Chapman S (1993) Recent advances in the radiology of child abuse. Baill Clin Paediatr 1: 211.

Dr Colin R Paterson, Department of Medicine, Ninewells Hospital and Medical School, Dundee DD1 9SY, Scotland. [email protected]

I am indebted to Mrs EA Monk for preparing the databases used in this work, to Dr SJ McAllion and Ms J Hoyal for advice on this article in draft and to the Cunningham Trustees for their support for our work on osteogenesis imperfecta.

Posted: Mon Feb 16, 2009 9:05 pm
by Marina ... v4c18.html

The Toddler's Fracture: Accident or Child Abuse?
Radiology Cases in Pediatric Emergency Medicine

Posted: Mon Feb 16, 2009 9:09 pm
by Marina ... 6pgesc.pdf

Medical Evaluation of Physical Abuse

Posted: Mon Feb 16, 2009 9:21 pm
by Marina ... Thesis.pdf

A Thesis

Posted: Mon Feb 16, 2009 9:25 pm
by Marina ... ossary.pdf

page 20

Spiral Fracture - Twisting causes the line of the fracture to encircle the bone like a spiral.

Posted: Mon Feb 16, 2009 9:29 pm
by Marina


Published in the "Journal of Australasian College of Nutritional & Environmental Medicine", Vol. 20 No. 2; August 2001

By Viera Scheibner, Ph.D.

Posted: Mon Feb 16, 2009 9:56 pm
by Marina

Faunal Analysis

Faunal Analysis is a specialty in archaeology that looks at the animal bone material at an archaeological site. ...

Frozen Bone


In order to test this I did an extensive study into bone biomechanics and the how it would fail and break under a variety of conditions. I designed an experiment to break the bones of fresh and frozen limbs and look at the breakage patterns.

It wasn't a surprise that the fresh bones exhibited spiral fractures that are typical of bone breakage (Figure 3). These breakage patterns are called spiral fracture because of the way they run down and around the shaft of the bone. They are caused by the collagen that runs through the bone in a spiral structure.

Figure 3. Spiral bone fracture

The frozen bone exhibited a very different breakage pattern though. The spiral structure of collagen within the bone was no longer the predominant factor in the way the bone broke. They had flat breaks that were more like bone that had been dessicated...

Posted: Mon Feb 16, 2009 10:02 pm
by Marina ... 84329.html

Toddler Fractures

"If one suspects OI, a punch biopsy of skin for analysis of collagen synthesis should be done."

Posted: Mon Feb 16, 2009 10:22 pm
by Marina

p. 7

Spiral fractures were believed to be highly associated with abusive
trauma due to the mechanism of twisting. Studies indicate that other fracture types such as transverse
may be more common, and that a spiral fracture in itself is not diagnostic of abuse (Frasier, 2003;
Leventhal et al., 1993; Scherl et al., 2000; Thomas et al., 1991). Spiral fractures can occur from seemingly
innocuous trauma (Schwend et al., 2000) such as tripping while running.

Posted: Mon Feb 16, 2009 10:30 pm
by Marina ... /abuse.htm




One disease deserving of special attention is osteogenesis imperfecta. This is actually a group of rare, genetically-determined disorders of bone growth resulting in a predisposition to fractures with smaller degrees of force than are required in normal children. Most children with osteogeneis imperfecta will have other indications of their disorder such as a positive family history, blue sclerae, hearing loss, abnormal teeth or noticeable osteopenia on radiographic examination. When there is clinical evidence to suggest the disorder, the diagnosis may be confirmed by skin biopsy with analysis of the collagen produced by fibroblasts in tissue culture, a process which costs several hundred dollars and requires approximately six weeks to complete. The chance of a subtle form of osteogenesis imperfecta arising as a new mutation in a child with no associated abnormalities has been calculated to be between one in one million to one in three million births, or one case every 100 to 300 years in a city of 500,00021. Children with suspicious fractures who have no other indicators of the disease need not be subjected to the skin biopsy procedure.


Posted: Mon Feb 16, 2009 10:47 pm
by Marina
Glucocorticoids include cortisone, etc. ... posium.pdf

page 18

Glucocorticoids are associated with increased fracture rates in children.

Posted: Mon May 25, 2009 8:16 pm
by Marina ... eID=111804

Fractures of abuse

There is no predominant fracture pattern in child abuse. Spiral fractures of the long bones have for years been thought to be highly suggestive of child abuse. In reality, diaphyseal fractures caused by abuse can be transverse, oblique, or spiral; the pattern is determined by the force applied. Fractures caused by physical abuse are most often found in the humerus, femur, and tibia. Other sites of fractures of abuse are (in descending order of frequency) the radius, skull, spine, ribs, ulna, and fibula.

Posted: Mon May 25, 2009 8:25 pm
by Marina

A high suspicion for abuse is required. Abuse is responsible for a staggering percentage of pediatric injuries. Spiral fractures, corner fracture, multiple fractures of different stages of healing, fracture patterns inconsistent with the history, unwitnessed fractures, and suspicious skin lesions are all red flags that warrant a complete skeletal survey. Keep in mind that there is no pathognomonic fracture for child abuse.

Pathognomonic ... is an adjective of Greek origin ... often used in medicine, which means diagnostic for a particular disease. A pathognomonic sign is a particular sign whose presence means, beyond any doubt, that a particular disease is present. It is derived from the Greek ... Labelling a sign or symptom "pathognomonic" represents a marked intensification of a "diagnostic" sign or symptom.

While some findings may be classic, typical or highly suggestive in a certain condition, they may not occur uniquely in this condition and therefore may not directly imply a specific diagnosis. A pathognomonic finding on the other hand allows immediate diagnosing, since there are no other conditions in the differential diagnosis.

Posted: Mon May 25, 2009 8:53 pm
by Marina

Patterns of skeletal fractures in child abuse: systematic review

Finally, and most importantly, we have identified many deficiencies in the scientific research in this field, and we have identified methodological limitations that we hope will inform high quality research in this field in the future.