Rare Diseases Symptoms Automatic Extraction
Home
A random Abstract
Our Project
Our Team
[Osteogenesis imperfecta].
[dentinogenesis imperfecta]
Osteogenesis
imperfecta
(
OI
)
is
the
most
common
genetic
disease
of
bone
and
is
characterized
by
fragile
bones
and
growth
disorders
of
varying
severity
.
Most
cases
of
OI
are
inherited
autosomal
dominant
and
caused
by
a
mutation
in
the
collagen
type
I
gene
.
Indications
for
OI
are
bone
fragility
,
stunted
growth
,
scoliosis
,
skull
deformities
,
blue
sclera
,
loss
of
hearing
,
dentinogenesis
imperfecta
and
increased
laxity
of
ligaments
and
skin
.
In
most
cases
it
is
possible
to
make
a
clinical
diagnosis
but
a
skin
biopsy
or
genetic
testing
can
be
useful
;
however
,
negative
results
for
these
tests
do
not
exclude
OI
.
Therapy
must
be
carried
out
in
a
multidisciplinary
team
and
includes
conservative
(
e
.
g
.
physiotherapy
,
rehabilitation
programs
and
orthopedic
aids
)
,
operative
(
e
.
g
.
intramedullary
stabilization
procedures
)
and
pharmaceutical
(
e
.
g
.
biphosphonates
and
growth
hormones
)
procedures
.
The
prognosis
depends
on
the
type
of
OI
and
ranges
from
normal
life
expectations
for
type
1
patients
up
to
up
to
perinatal
mortality
for
type
II
patients
.
Diseases
Validation
Diseases presenting
"genetic testing can be useful"
symptom
dentinogenesis imperfecta
You can validate or delete this automatically detected symptom
Validate the Symptom
Delete the Symptom