Child Abuse_Section A3.pptx

© 2016 American Academy of Pediatrics
Abusive Fractures
Physical Abuse
Rachel Gilgoff, MD
Sarah J. Passmore, DO

Objectives
o Know the incidence of abusive fractures and how the
incidence varies with age.
o Know fracture types considered to have high,
moderate, and low specificity for abuse.
o Know the mechanism of injury for rib fractures and
classic metaphyseal lesions (CMLs).
o Know the imaging modalities in the evaluation of
fractures.
o Identify a differential diagnosis for abusive fractures.
2

Abusive Fractures
o Children with abusive fractures are often too young to
provide history.
o The history may be lacking or intentionally misleading.
o Missed abusive fractures can result in repeated abuse,
sometimes with devastating consequences.
o Misidentifying a non-abusive fracture as abusive can
have detrimental effects for the patient and family.
3

Epidemiology
o Reported prevalence of fractures due to abuse varies
across studies.
o Kemp (2008) meta-analysis
 25%–56% of fractures in children younger than 1 year due to abuse
o Worlock (1986)
 80% of abusive fractures are in children younger than 18 months, and
85% of non-abusive fractures are in children older than 5 years.
 74% of abused vs 16% of non-abused with 2 or more fractures.
 Annual incidence 4 per 10,000 younger than 18 months.
4

Epidemiology (continued)
o Leventhal (2008)
 Abuse accounts for about 12% of children
younger than 36 months hospitalized with fractures.
– Incidence: 15.3/100,000
 Incidence decreases as age increases.
– 36.1/100,000 younger than 12 months (24.9% of fractures)
– 4.8/100,000 12–23 months (7.2% of fractures)
– 4.8/100,000 24–35 months (2.9% of fractures)
5

Mechanisms of Injury in Fractures
o Combination of forces at play in most fractures
o Spiral fractures: caused by torsional, or twisting, forces
o Buckle fractures: caused by axial, or compressive,
loading
o Transverse fractures: caused by bending
o Oblique fractures: caused by combination of
compression, loading, bending, or more complex loads
o CML: caused by shearing or traction/twisting/yanking
6

Fracture Specificity
o Any fracture can be the result of abuse.
o No fracture is pathognomonic of abuse.
o Some fractures, however, have greater specificity
for abuse.
7

Fracture Specificity (continued)
Diagnosis relies on more than fracture specificity.
o History (or lack of history)
o Age and development of child
o Other examination findings
o Consideration and elimination of underlying
medical conditions
o Investigation by community professionals such as
law enforcement and social services
8

High Specificity
o Rib fractures, especially posterior
o CMLs
o Scapular fractures
o Spinous process fractures
o Sternal fractures
9

Rib Fractures in Infants and Toddlers
o Probability of abuse varies across studies.
o Lacking motor vehicle crash, known violent trauma,
or postsurgical history, the probability of abuse is
about 70%.
o Eliminate bone disease and probability increases.
o Have a 95% positive predictive value for abuse
(Barsness 2003).
10

Abusive Rib Fractures
o Relatively common in child abuse
o 90% seen younger than 2 years
o Posterior rib fractures involve
 Rib head: costovertebral articulation
 Rib neck: costotransverse process articulation
11

Rib Fracture Causes
o Uncommon with birth trauma.
o Not cardiopulmonary resuscitation, especially posterior
rib fractures.
o New studies mixed about 2-handed cardiopulmonary
resuscitation techniques as a cause.
o Compressive forces, not direct blows.
o Seldom see overlying bruises.
o After fractures, infant is often relatively asymptomatic.
12

Rib Fractures
13
Courtesy of Mosby.

Rib Fractures
14
LEFT: Rib head fractures (straight white arrows) and a rib neck fracture (curved white arrows). With anteroposterior
compression, the rib neck is forced against the transverse process of the vertebrae, causing the fracture, and the rib head is
also forced against the vertebrae (black arrow with white outline), causing the fracture.
RIGHT: Posterior rib fractures involving the rib head and neck are highly specific for abuse. This image shows anteroposterior
compression of the ribs (black arrows). The red arrows show the resulting direction of the forces on the posterior rib head and
neck, pushing them against the vertebrae.

Rib Fractures
15
Courtesy of Mosby.

Rib Fractures
16
Rib/vertebral articulations. This image shows the multiple articulations of the ribs with the vertebrae in a 3-D–type view. Violent
anteroposterior compression often results in multiple rib fractures. These fractures can occur anywhere on the rib arc but are
especially common in the rib head and neck due to the rib/vertebral articulations.

Posterior Rib Fractures on Plain Radiograph
17
Posterior rib fractures may be difficult to recognize. Non-displaced acute rib fractures are often difficult to see radiographically,
especially in the posterior location. Only with displacement or when callus formation is present do the fractures become
obvious. The amount of callus and the degree of remodeling also affect recognition. This 3-month-old girl presented with
bruises and altered neurologic status. Notice the irregularity of the posterior aspect of the ninth left rib on the chest radiograph.
In addition, there are subtle irregularities of left ribs 5 and 6. Clinicians could miss this finding.

Lateral Rib Fractures on Plain Radiograph
18
This case illustrates the importance of carefully looking at the entire radiograph, a principle taught to every medical student but
often forgotten in the rush of modern medical care. This 2-month-old presented to an emergency department with a mild
respiratory infection. The clinicians reviewed the chest x-ray film for pulmonary disease; finding none, they discharged the child
home. On the posteroanterior (PA) view, notice the bulbous area at the lateral aspect of the right fourth rib. This represents a
healing fracture, and recognition of this would have led to an evaluation for child abuse. Unfortunately, identification of this
injury did not occur and the child presented with a fatal abusive head injury 5 days later.

Posterior and Lateral Rib Fractures on Plain Radiograph
19
This chest radiograph more clearly demonstrates the callus formation of healing posterior rib fractures. Notice the bulbous
appearance that is callus on left ribs 6, 7, and 8 in the paravertebral area. Closer inspection reveals other abnormalities of
posterior ribs on the left and right. In addition, irregularity is present on the lateral aspects of right rib 6.
The 4-month-old from this image and the image on slide 22 died as a result of child abuse. Autopsy elucidated the rib
abnormalities detected on the chest radiograph.
Ribs fractures can occur at any point along the rib arc. Direct trauma to the chest as well as pressure on the rib cage can
fracture ribs in lateral or anterior locations, in addition to posteriorly past the paravertebral area for previously discussed
reasons. Depending on the location of the fracture, radiographs in the acute phase may reveal a fracture line or even
displacement, but as with paravertebral posterior rib fractures, visualization in the healing phase is easier and more common.

Posterior Rib on Computed Tomography Scan
20
Computed tomography image showing the fifth or sixth rib fracture in the same child as on slide 17.

Posterior Rib on Computed Tomography Scan
21
Computed tomography (CT) image showing the callus formation that corresponds to the ninth rib fracture seen on chest
radiograph on slide 17. In total, the CT scan showed 4 acute left-sided posterior rib fractures. Although CT is not the usual
imaging modality to assess for rib fractures, remember to carefully evaluate all available images for unsuspected injuries. More
common methods to improve detection of rib fractures include oblique views, radionuclide bone scans, and follow-up
examination 2 weeks later to assess for callus formation of previously undetected acute rib fractures. There are advantages
and disadvantages of each method that may vary depending on the patient situation. Paravertebral posterior rib fractures such
as those seen here occur when the chest is compressed in an anteroposterior direction, levering the posterior rib over the
transverse process of the vertebra. These fractures do not occur when there is only anterior compression of the chest on a flat
surface. Carefully consider this distinction when obtaining a history from caregivers of children with these fractures.

Rib Fractures on Autopsy
22
The 4-month-old from slide 19 died as a result of child abuse. Autopsy elucidated the rib abnormalities detected on the chest
radiograph. Multiple paravertebral posterior rib fractures on the left and right are visible on gross examination of the rib cage.
Observe the right lateral rib fractures in this image from the autopsy. The larger callus corresponds to the irregularity visible on
rib 6 on the chest radiograph; there is also a fracture on rib 5 that, although healing, was not detectable on the available
radiography.
Ribs fractures can occur at any point along the rib arc. Direct trauma to the chest as well as pressure on the rib cage can
fracture ribs in lateral or anterior locations, in addition to posteriorly past the paravertebral area for previously discussed
reasons. Depending on the location of the fracture, radiographs in the acute phase may reveal a fracture line or even
displacement, but as with paravertebral posterior rib fractures, visualization in the healing phase is easier and more common.

Rib Fractures on Autopsy (continued)
23
Not all rib fractures are difficult to see. This 7-month-old boy’s parents brought him to the hospital in full arrest; he died several
months later as a result of this abuse.
Evaluation for non-abusive trauma is as important as always. In addition, clinicians must consider metabolic issues making
bones more susceptible to fractures. Also, obtain a history about pain, lack of use of an extremity, swelling, and medical care
sought. The parents of this 7-month-old obtained no medical care for him since 2 months of age and denied that he ever had
symptoms from these multiple fractures.

Classic Metaphyseal Lesions (CMLs)
o Also known as corner fracture, chip fracture,
bucket-handle fracture
o Long known to be associated with abuse
o Prior to the mid-1980s, was thought to be an
avulsion fracture
24

CMLs (continued)
o Actually a series of planar microfractures through
the primary spongiosa region of the ends of long
bones.
 Chondro-osseous junction (primary spongiosa of
metaphysis)
 Near subperiosteal bone collar
o Disc-like fragment results from these fractures.
o Viewed tangentially = corner fracture.
o Viewed at angle = bucket handle.
25

CMLs (continued)
26
Courtesy of Paul K. Kleinman, MD.

CMLs (continued)
o Requires shearing forces not typically produced in
non-abusive trauma.
o Possibly produced during shaking where limbs flail
about.
o Also consider twisting and jerking.
o Has been seen in infants undergoing manipulation
and casting for clubfoot deformity.
27

CMLs (continued)
28
This image shows the distal femur of a 6-month-old. Note the separation of a corner of the metaphysis and the radiolucent
line. This is the classic metaphyseal lesion (CML) that is relatively specific for child abuse. Depending on the projection, the
fracture can have a corner-fracture or bucket-handle appearance and is correctly called CML. CMLs are primarily fractures of
infancy due to the histologic properties of the infant skeleton. Pulling or twisting an extremity or subjecting extremities to rapid
acceleration and deceleration, such as during a violent shaking, can cause these injuries.

CMLs (continued)
29
The classic metaphyseal lesion in this image of a 1-year-old without history of trauma to the femur shows the corner-fracture
configuration.

CMLs (continued)
30
Classic metaphyseal lesions (CMLs) can be hard to visualize. They may not be evident on initial radiography, or the initial
studies may be of inadequate quality. This 4-month-old was dying in the pediatric intensive care unit of head and abdominal
injuries and a full skeletal survey was not possible. However, this image of her right lower extremity (left) suggested an
abnormality of her distal femur. On her death, the child abuse pediatrician alerted the medical examiner to the abnormality, and
focal resection followed by specimen radiography revealed the CML (right).

Moderate Specificity
o Multiple fractures, especially bilateral
o Fractures at different ages
o Epiphyseal separations
o Vertebral body fractures/subluxations
o Digit fractures
31

Common But Low Specificity
o Subperiosteal new bone formation.
o Clavicle fractures.
o Long bone shaft fractures.
o Skull fractures.
o Low-specificity fractures may be strong indicators
of abuse in the appropriate clinical setting (eg, no
trauma history in a nonmobile baby).
32

Skull Fractures
33
Simple Complex
Linear—not crossing suture lines Linear—crossing suture lines
<2 mm separation >2 mm separation
Stellate, branching
Comminuted (fragments)
Depressed
Compound
Diastatic (growing)

Skull Fractures (continued)
o Complex skull fractures frequently reported to be
more specific for abuse, but studies report varied
results.
o Wood (2009)
 In infants with isolated skull fractures, skeletal survey may
not add “additional information, beyond the history and
physical findings, to support a report to child protective
services.”
34

Myths About Fractures
o Myth: Spiral fractures are nearly always abusive.
 Fact: Spiral fractures can be non-abusive.
o Myth: Babies’ bones break easily.
 Fact: It takes significant force to break an infant’s bones.
o Myth: There should be bruises over inflicted
fractures.
 Fact: About 60% of fractures have no bruises.
 Fact: 26% sensitivity to predict abusive fracture.
– Peters (2008)
– Valvano (2009)
35

Medical Evaluation of Fractures
o A detailed history including witnesses
o A clear developmental history
o Past medical history/family history
o Scene evaluation: pictures and measurements
o Skeletal survey (in children younger than 2 years)
36

Medical Evaluation of Fractures (continued)
o Laboratory should be guided by history and clinical
findings.
o Consider
 Complete blood cell count, serum calcium, phosphorus,
alkaline phosphatase, 25-hydroxy vitamin D, parathyroid
hormone (PTH), copper, ceruloplasmin
o Consider head/abdominal computed tomography
scan, amylase, lipase, urinalysis, and liver function
tests to screen for additional trauma.
37

Diagnostic Imaging
Goals
o Identify acute occult fractures.
o Identify healing fractures that may or may not have
been occult at time of injury.
o Document the extent of patient’s injuries.
o Increase diagnostic accuracy.
 May reveal signs of bone disease.
 Identification of additional fractures may solidify abuse
diagnosis.
38

Diagnostic Imaging (continued)
o Clinical findings and suspicions must be correlated
with radiographic findings.
o Radiologist should be fully informed of the
suspicion of abuse before examination.
39

Skeletal Survey
o The skeletal survey is the primary imaging study
for suspected child abuse in children younger
than 2 years.
o Must comply with standards developed by the
American College of Radiology.
o 19 separate radiographic exposures.
o “Babygram” not acceptable.
40

Skeletal Survey (continued)
41
Skull: frontal and lateral views
Spine: frontal, lateral thoracolumbar spine (including sternum)
Chest: frontal and lateral
Extremities
Upper: frontal to include shoulders and hands
Lower: frontal to include lower lumbar spine, pelvis, feet
Skull: frontal and lateral views

o Ideally read by pediatric radiologist.
o Skeletal survey should be repeated 2 weeks
post-injury.
42

Healing Fractures Found on Repeat Skeletal Survey
43
LEFT: This skeletal survey shows healing of the left clavicle but also 5 healing rib fractures.
RIGHT: This skeletal survey of the same child as the left-hand image from 2 weeks prior shows only a fractured left clavicle.
Rib fractures, and many other fractures in children, are not seen on radiographs until healing bone develops.

o Digital (filmless) radiography is now primarily used
for film radiography.
o Digital radiography affords performance
comparable to high-detail/film-screen imaging for
the identification of abuse-related skeletal injuries.
44

Radionuclide Scintigraphy
A Complementary Imaging Modality

Radionuclide Scintigraphy
o Useful in acute, subtle fractures, especially of ribs
and in periosteal injury.
o Inherent technical difficulties: immobilization and
positioning of child, magnification, equipment.
o Dependent on competence of reading by
radiologist.
46

Radionuclide Scintigraphy (continued)
o Bone scans obscure metaphyses, symmetrical
fractures, subtle spinal injuries.
o Cannot determine age and type of fracture.
o Bone scans cannot detect skull fractures.
47

Chest Computed Tomography Scans
o May be obtained during trauma workup in children
with acute severe injury
o 3-D reconstruction useful in demonstrating
fractures to nonmedical personnel
o Increased radiation
48

Bone Densitometry
o May be helpful in the future.
o No widely accepted age-adjusted reference
values.
o The threshold level of decreased mineralization
that leads to increased fracture risk is unknown.
49

General Considerations
o Healing varies by age, location, and severity.
o Some fractures, like CMLs and skull, are not
amenable to radiologic dating.
o Delay in treatment (immobilization) will lead to a
delay in healing.
o Dating estimates should be expressed in
conservative ranges.
51

Radiologic Dating
o Resolution of soft tissue changes: 4–10 days
o Subperiosteal new bone formation: 7–14 days
o Loss of fracture line: 10–20 days
o Soft callus: 14–21 days
o Hard callus: 21–42 days
o Remodeling: 1 year
52

Differential Diagnosis
o Non-abusive trauma.
 Usually the primary diagnostic consideration
o Obstetric trauma: Breech and traumatic deliveries
can cause skeletal injuries.
 Clavicular and humeral fractures most common.
 Rib fractures—extraordinarily rare.
 Birth-related fractures often overlooked initially.
 Premature babies have higher incidence.
54

Differential Diagnosis (continued)
o Obstetric trauma: Breech and traumatic deliveries
can cause skeletal injuries. (continued)
 Birth-related fractures heal rapidly with early callus.
 Does not account for acute fractures identified after a few
weeks of age.
 Can be a consideration for healing fractures in the first few
months of life.
o Prematurity, especially with maternal steroid use.
55

Osteopenia of Prematurity
o Virtually universal in babies younger than 32 weeks’
gestation
o Majority of mineralization in third trimester
o Can peak when corrected age is near term
o Neonatal intensive care unit review
 Nutrition
 Therapies/range of motion
 Radiographs—especially chest
o Plain radiographs not sensitive for demineralization
56

o Nutritional deficiencies
 Rickets
 Scurvy
57

Rickets
o Clearly a real issue.
o Detailed family and dietary history.
o Do not expect pathologic fractures without
radiologic changes.
o Metaphyseal irregularity and cupping.
o Rachitic rosary.
o Consider calcium, 25-hydroxy vitamin D,
phosphorus, and PTH levels.
58

Rickets (continued)
59
Clinicians discovered this 13-month-old’s rickets when routine laboratory tests for his respiratory syncytial virus hospitalization
revealed a significantly elevated alkaline phosphatase level. His 25-hydroxy vitamin D level was markedly low. Note the
metaphyseal irregularity, cupping, and widening of the physis of his radius, ulna, femur, and tibia.

Rickets (continued)
60
60
Clinicians discovered this 13-month-old’s rickets
when routine laboratory tests for his respiratory
syncytial virus hospitalization revealed a
significantly elevated alkaline phosphatase level.
His 25-hydroxy vitamin D level was markedly
low. Note the metaphyseal irregularity, cupping,
and widening of the physis of his radius, ulna,
femur, and tibia.

Rachitic Rosary
61
Clinicians raised concern about child abuse in this infant’s case because of possible rib fractures. Note the location of the “rib
fractures” on this chest radiograph—they are all at the costochondral junction. This is a rachitic rosary. The views of the upper
and lower extremities show metaphyseal cupping and subperiosteal new bone formation of the long bones as well as bowing
of both fibulae. This child had rickets.

Low Maternal Vitamin D Alone Does Not
Mean Congenital Rickets
o Teotia (1995)
 “Only 3/165 newborns born to osteomalacia mothers had
vitamin D deficiency rickets suggesting that babies are
usually more protected than their mothers against calcium
and vitamin D deficiency in utero.”
 “This protection fails when maternal stores are completely
exhausted.”
62

Low Maternal Vitamin D Alone Does Not
Mean Congenital Rickets (continued)
o Shaw (2013)
 “There is no convincing data on rickets, diagnosed
radiologically, in infants born to mothers with subclinical
vitamin D deficiency.”
 “Taken together, these reports and data suggest that
vitamin D deficiency, severe enough to cause maternal
osteomalacia, can lead to radiologically apparent rickets in
neonates. However, infants born to mothers with very low
serum 25(OH)D during pregnancy did not have radiological
evidence of rickets.” (emphasis added)
63

Vitamin D and Fractures
o Perez-Rossello (2012)
 Evaluated 40 children 8 to 24 months with vitamin D
deficiency (20 ng/mL or less)
 No fractures
o Contreras (2014)
 Compared 100 children younger than 18 months with
fracture and 100 without fracture.
 Vitamin D sufficiency was not a significant predictor of
fracture status.
64

Vitamin D and Fractures (continued)
o Chapman (2010)
 45 children aged 2 to 24 months with rickets.
 17.5% had fractures; all were mobile and all had overt
radiographic signs of rickets.
65

Rickets and Fractures
o Overall, children with metabolic bone disease and
fractures have
 Overt changes on radiography
 Clinical history indicating a risk of metabolic bone disease
 Laboratory tests consistent with metabolic bone disease
– Low vitamin D, elevated alkaline phosphatase (best indicator),
elevated PTH levels
 Fracture pattern that is not the same pattern as in child
abuse cases
66

Scurvy
o Almost never an issue with routinely fed children.
o Take a careful dietary history.
o Fractures would be unusual without cutaneous or
systemic symptoms.
67

Differential Diagnosis
Numerous rare conditions can cause fractures.
o Nutritional disorders—scurvy, rickets
o Secondary hypoparathyroidism
o Menkes disease
o Drugs—prostaglandin, methotrexate, vitamin A
o Infection—osteomyelitis, syphilis
o Neuromuscular disorders—cerebral palsy, spinal
dysraphism
o Neoplasms
68

Infections
o Osteomyelitis: metaphyseal irregularities,
periosteal new bone formation
 Diagnosed with culture results, biopsy
o Congenital syphilis: Wimberger sign, serology
o Metabolic bone diseases
 Osteopetrosis
 Bony dysplasias
69

Skeletal Dysplasias
o Osteogenesis imperfecta (OI)—most cited in legal
context to explain inflicted injuries
70

Osteogenesis Imperfecta (OI)
o Disorder of connective tissue.
o At least 8 clinical types based on clinical
expression.
o Type 4 is the most common form mistaken for
abuse (Pandya 2011).
o Child abuse much more common than OI.
71

OI Type 1
Mild phenotype
o Hearing loss in about 50% (late onset)
o Mild but significant osteoporosis
o Wormian bones (significant number)
72

OI Type 1 (continued)
Mild phenotype (continued)
o Normal or close to normal stature
o Primarily autosomal dominant
 Group 1A (Most)
– Blue sclera/normal teeth
 Group 1B
– Dentinogenesis imperfecta (DI)
73

Blue Sclerae
74
Osteogenesis imperfecta (OI). Blue sclera is a common hallmark of OI, although it is not present in several forms of the
disease. This 2-year-old presented for care with her second toddler fracture in an 8-month period. History revealed that she
had a clavicular fracture at birth. When questioned about the child’s blue sclera, the mother replied that they were just like the
child’s father, who was estranged from the family and whose medical history was unknown to the mother. The mother was then
able to find out more information about him and learned that he had been diagnosed with OI but had no fractures after his teen
years. Notice the blue tint to the patient’s sclera. She also had long, thin fingers and toes; hyperextensible joints; and a
triangular face. The radiograph shown here demonstrates thinning of the cortices of the long bones and bowing of the tibia. On
a clinical basis, this child was diagnosed with type 1 OI.

OI Type 2
o Lethal in utero or early infancy
75

OI Type 3
o Moderately severe phenotype early.
o Short stature at birth with bowed legs.
o Blue-gray sclera at birth converting to normal
white later.
o DI is common.
o Many fractures early and throughout life.
o Progressive deformation of spine and extremities.
76

o Severe osteoporosis (even early on).
o Two-thirds have fractures at birth.
o Wormian bones and skull deformation with poor
ossification.
o Slightly short, thin, deformed (angulated) long
bones with thin cortices.
o “Popcorn” metaphyseal calcifications.
o Codfish vertebrae (severe osteoporosis).
o Exuberant callus formation, common.
77

OI Type 4
o Similar to type 1
o Clinically varied presentations
o Significant short stature early
o Distinctive craniofacial configuration (triangular
facies, bitemporal bulging)
o Fracture onset often prenatal
78

o Normal sclerae
o Hearing loss not common
o Primarily autosomal dominant
o Very rare form: 1.1 in 3 million births
79

OI Type 4A and 4B
o 4A
 Normal teeth
o 4B
 DI
80

OI Type 5 and 6
o Type 5
 Non-collagen variant
 Autosomal dominant
 Usually don’t have DI or blue sclerae
o Type 6
 Autosomal recessive
 Moderate to severe
 Don’t have DI or blue sclerae
81

OI Type 7
o Autosomal recessive
 Moderate to severe
 Reduction of expression of cartilage-associated protein
(CRTAP)
 Lethal if total absence of CRTAP
o Unclassified OI
 Additional mutations affecting collagen identified but not yet
formally classified as OI
82

Diagnosis of OI
o Clinical diagnosis
 Characteristic physical features
 Characteristic fractures
o Radiologic diagnosis
 Osteoporosis—the sine qua non
o Laboratory diagnosis
 DNA
 Fibroblast culture
83

Bowed Bones in OI
84
Osteogenesis imperfecta (OI). Children with more severe forms of OI will present much earlier in life. These radiographs were
taken of a 5-day-old with bowed, shortened femurs and blue sclera at birth. Notice the bowing and osteopenia of both femurs
and the tibia and fibula (left). There is an acute fracture of the left fibula (arrow in right image).

Bowed Bones in OI (continued)
85
Often called brittle bone disease, osteogenesis imperfecta (OI) is one of the genetic disorders that can lead to unexplained or
poorly explained bone fractures in childhood, thereby raising concern about the possibility of child abuse. OI is a result of a
genetic defect causing a change in quality or quantity of a specific type of collagen. This disruption in collagen, in turn, causes,
among other problems, defective bone structure and increased susceptibility to fractures. There are many different types of OI
resulting in varying clinical features. The vast majority of patients have a dominant genetic mutation; spontaneous mutations
can occur, though, meaning some patients will have no family history of the disorder. Diagnosis is usually clinical, but in more
mild cases, formal testing may be necessary. Such formal testing for OI includes DNA-based analysis or collagen-based
testing.

Wormian Bones
86
Wormian bones occur in other disorders or even as normal variants. Observe the multiple wormian bones on the skull radiography
of this 8-month-old. This infant’s mother had cleidocranial dysplasia, an autosomal-dominant disorder characterized by absent or
abnormal clavicles, delayed closure of the anterior fontanel, frontal bossing, and dental abnormalities.

Temporary OI
o Paterson (1993): 39 patients reported with
fractures in infancy.
o Controversy arises because
 Fractures are classic child abuse fractures.
 No identified etiology.
 Paterson’s theory of a temporary enzyme deficiency has no
basis in science.
87

Temporary OI (continued)
o Other theories suggest a lack of prenatal
movement leads to OI.
o Disease coincidentally improves after foster
placement.
o The disease is not diagnosed outside of court.
88

Key Points
Identification of abusive fractures is based on entire
clinical evaluation.
o History
o Physical examination
o Age and development
o Fracture type and specificity
o Consideration of a differential diagnosis and
appropriate workup
89

Key Points: Abusive or Not?
o No fracture is pathognomonic, although some
have higher specificity for abuse.
 Posterior rib fractures and CMLs
o Abusive fractures occur more commonly in infants
and toddlers than older children.
o Prevalence of non-abusive traumatic causes
increases with age of child.
o There is an association between multiple fractures
and abuse.
90

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