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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
"severe forms"
symptom
classical phenylketonuria
congenital adrenal hyperplasia
congenital toxoplasmosis
cystinuria
dentin dysplasia
dentinogenesis imperfecta
dystrophic epidermolysis bullosa
hydrocephalus with stenosis of the aqueduct of sylvius
junctional epidermolysis bullosa
kindler syndrome
omenn syndrome
primary hyperoxaluria type 1
pyomyositis
severe combined immunodeficiency
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