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[Osteogenesis imperfecta. Clinical, functional and multidisciplinary evaluation of 65 patients].
[dentinogenesis imperfecta]
Osteogenesis
Imperfecta
(
OI
)
is
a
genetic
disease
,
in
which
the
main
clinical
features
are
increased
bone
fragility
,
pathological
fractures
,
blue
sclera
,
dentinogenesis
imperfecta
and
conductive
or
mixed
hearing
loss
.
Clinical
variability
is
wide
.
Although
there
is
no
curative
treatment
,
there
are
several
therapeutic
tools
capable
of
improving
the
course
of
the
condition
and
patient
quality
of
life
.
Sixty
-
five
children
seen
in
a
Paediatric
Hospital
during
six
months
in
2007
were
evaluated
.
Thirty
-
five
were
type
I
OI
,
and
thirty
were
types
III
-IV
.
Median
age
was
7
.
8
years
(
range
1
.
9
-
19
.
2
)
;
mean
length
of
follow
up
was
4
.
7
years
.
The
majority
of
children
attended
regular
school
for
their
corresponding
age
.
Mean
height
was
-
1
.
4
sDS
and
-
5
.
64
sDS
in
types
I
and
III
-IV
respectively
.
Nineteen
percent
of
patients
were
overweight
and
11
%
were
obese
.
Mean
age
at
first
orthopaedic
surgery
inserting
telescopic
rods
was
6
.
5
years
.
Scoliosis
was
present
in
44
.
6
%
of
patients
and
was
directly
related
to
severity
.
Bleck
's
motor
scale
showed
that
93
%
of
patients
with
mild
forms
and
29
%
of
severe
forms
had
a
sustainable
walking
ability
.
A
wheelchair
was
used
by
25
%
of
patients
.
Family
inheritance
was
confirmed
in
65
%
of
cases
.
Integral
care
using
a
multidisciplinary
approach
is
required
due
to
the
complexity
and
clinical
variability
of
the
condition
.
Diseases
Validation
Diseases presenting
"dentinogenesis imperfecta"
symptom
dentin dysplasia
dentinogenesis imperfecta
oligodontia
papillon-lefèvre syndrome
This symptom has already been validated