what-when-how
In Depth Tutorials and Information
While the evaluation may vary between institutions,
it should be directed by both age and clinical presen-
tation. Many hospitals have specific protocols in place
that detail the studies and sequence to be performed.
2
In our institution, a child in the emergency department
with multiple fractures will routinely receive a com-
plete skeletal survey and laboratory studies to include
ionized calcium, phosphorus, alkaline phosphatase,
parathyroid hormone, 25-hydroxyvitamin D level, AST,
ALT, amylase, lipase, urinalysis, urine toxicology and
molecular testing for OI (done in consultation with
genetics).
33
Once an inpatient, the child would be seen
in consultation by the trauma service, ophthalmology,
orthopedics and genetics, and child life. A diagnosis is
often identified upon the rapid review of all available
clinical, historical, radiographic and laboratory-based
information. We recommend this protocol.
Occasionally, additional studies are needed. For
example, we recently evaluated a child with multiple
fractures who, per protocol, underwent molecular analy-
sis for COL1A1 and COL1A2. A variant in sequence was
identified that was novel and did not have a known
pathologic correlation. Parental testing suggested the
possibility of either a
de novo
sequence variation or non-
paternity. As this was the second child investigated for
removal from the home, an exact interpretation of these
molecular findings was critical for the issues of place-
ment and child custody. Dermal biopsy fibroblast analy-
sis for type I collagen synthesis was necessary to absolve
the consideration for OI in the legal battle that sur-
rounded this child (personal communication).
In recent years, the availability of molecular test-
ing for OI on a blood sample instead of the need for a
skin biopsy has made the process less complicated but
has probably also led to increased requests for genetic
consultation. A recent article in the
Brigham Young
University Law Review
has argued that routine use of
bone density testing could be used to reduce the like-
lihood of mistaken allegations of innocent caretakers.
32
However, the current lack of pediatric standards for
DEXA interpretation for children under age 5 years lim-
its the utility of this approach.
will require physicians to provide assessments and
opinions on the probability of alternate causation. Such
testing is already the “standard of care” in many cen-
ters. In order to avoid unwarranted allegations and
unjust convictions and acquittals in criminal court,
the best legal practice is to have a complete medical
work-up and diagnosis, including thorough family and
patient histories, prior to the initiation of, or early in
the process of, a criminal or child-removal proceeding.
Pediatricians and child abuse specialists should antici-
pate the “osteogenesis imperfecta defense” and perform
and document thorough medical examinations in order
to exclude OI on any patient where an NAT diagnosis
involving fractures is being considered.
29
References
[4]
Castaneda R. Velasquez vs. United States Washington Post
, 2005.
[10]
[11]
[12]
CLOSING COMMENTS
[13]
Despite attempts to delineate clear clinical distinc-
tions between the child with OI vs. NAT, uncertainty
may exist in certain cases. This presents a challenge for
primary care physicians as well as geneticists and other
specialists.
The ready availability of molecular diagnosis on
routine blood samples coupled with the frequent asser-
tion of “metabolic bone disease” by defendants in legal
proceedings as potential causes for multiple fractures
[14]
[15]
[16]
