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Current and emerging treatments for the management of osteogenesis imperfecta.
[dentinogenesis imperfecta]
Osteogenesis
imperfecta
(
OI
)
is
the
most
common
bone
genetic
disorder
and
it
is
characterized
by
bone
brittleness
and
various
degrees
of
growth
disorder
.
Clinical
severity
varies
widely
;
nowadays
eight
types
are
distinguished
and
two
new
forms
have
been
recently
described
although
not
yet
classified
.
The
approach
to
such
a
variable
and
heterogeneous
disease
should
be
global
and
therefore
multidisciplinary
.
For
simplicity
,
the
objectives
of
treatment
can
be
reduced
to
three
typical
situations
:
the
lethal
perinatal
form
(
type
II
)
,
in
which
the
problem
is
survival
at
birth
;
the
severe
and
moderate
forms
(
types
III
-IX
)
,
in
which
the
objective
is
'
autonomy
'
;
and
the
mild
form
(
type
I
)
,
in
which
the
aim
is
to
reach
'
normal
life
'
.
Three
types
of
treatment
are
available
:
non-surgical
management
(
physical
therapy
,
rehabilitation
,
bracing
and
splinting
)
,
surgical
management
(
intramedullary
rod
positioning
,
spinal
and
basilar
impression
surgery
)
and
medical-pharmacological
management
(
drugs
to
increase
the
strength
of
bone
and
decrease
the
number
of
fractures
as
bisphosphonates
or
growth
hormone
,
depending
on
the
type
of
OI
)
.
Suggestions
and
guidelines
for
a
therapeutic
approach
are
indicated
and
updated
with
the
most
recent
findings
in
OI
diagnosis
and
treatment
.
Diseases
Validation
Diseases presenting
"lethal perinatal form"
symptom
dentinogenesis imperfecta
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