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In Depth Tutorials and Information
CHAPTER
42
Osteogenesis Imperfecta and
No
n-Accidental Trau
ma
Dina J. Zand
1
, P. Leigh Bishop
2
, Kenneth N. Rosenbaum
1
and
Eglal Shalaby-Rana
1
1
The George Washington School of Medicine and Health Sciences, Children's National Medical Center,
Washington, DC, USA,
2
Special Victims Bureau, Queens County District Attorney, Kew Gardens, NY,
USA
BRIEF HISTORICAL REVIEW OF CHILD
ABUSE AND THE LAW
Velasquez v. United States
,
4
a case ultimately settled
before trial, involved a child that was removed from her
biological family after presenting to a military hospital
with multiple rib fractures as a result of suspected non-
accidental trauma. A genetics evaluation was eventu-
ally performed and led to a likely diagnosis of type I OI
on the basis of blue sclerae and other clinical findings.
In addition, the child's mother was also thought to be
clinically affected because of similar physical findings
and a history of unexplained conductive hearing loss.
Molecular testing was performed on both the mother
and child who were found to have a pathogenic muta-
tion in the COL1A1 gene. The child was returned to
her family and criminal charges against the father were
overturned.
More recently, in
People v. Hang Bin Li
, Queens
County, New York, 2013, the defendant was charged
with shaking and slamming his 10-week-old daugh-
ter to death. This previously healthy baby sustained a
severe skull fracture, subdural hematoma, significant
brain swelling and brain injury, too-numerous-to-count
bilateral retinal hemorrhages, three classic metaphy-
seal lesions in her legs and was found to have a heal-
ing posterior rib fracture and no bruising. The parents,
who were with the baby at the time of her injury, ini-
tially told doctors and law enforcement that the baby
had suffered “no trauma.” Later, the defendant told
doctors and law enforcement that he had accidentally
struck the baby's head on a nightstand. Before trial, the
prosecutors sought to have the baby's tissues and her
The evolution of child protection laws in the United
States and the rise in related criminal court and family
court litigation parallel the increase in public awareness
of this widespread problem. Although numerous anec-
dotal reports of child abuse dating back to the 1800s
exist, it wasn't until Kempe et al. in 1962 described
“battered child syndrome”
1
that pediatricians around
the world began to focus on the diagnosis of children
who presented for medical treatment with multiple
fractures and other patterns of inflicted injury. As a
result, many pediatric hospitals developed child protec-
tion programs that worked closely with local and state
agencies to initiate medical and investigative guide-
lines for care and evaluation. Currently, all 50 states and
many foreign countries have child protection laws in
place with mandatory reporting requirements.
2
Local,
state and federal agencies work in tandem with medi-
cal providers to investigate the circumstances surround-
ing suspicious injuries. Given the staggering number
of abused children in the United States, physicians are
asked with increasing frequency to evaluate a child for
the presence of osteogenesis imperfecta (OI) or other
metabolic bone disorders.
3
Numerous landmark cases have been reported in the
media over the last few years in which those charged
with abuse proffered minor trauma and OI as the true
underlying cause of the child's injuries. For instance,
