Rare Diseases Symptoms Automatic Extraction
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A random Abstract
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Three-dimensional ultrasound in the prenatal diagnosis of osteogenesis imperfecta.
[dentinogenesis imperfecta]
Fetal
osteogenesis
imperfecta
(
OI
)
is
a
heterogeneous
group
of
collagen
disorders
characterized
by
bone
fragility
,
blue
sclerae
,
deafness
,
and
dentinogenesis
imperfecta
.
Ultrasonography
is
acknowledged
as
a
reliable
diagnostic
modality
for
the
prenatal
diagnosis
of
OI
,
especially
type
II
.
In
the
past
,
two
-dimensional
(
2
D
)
ultrasound
(
US
)
has
been
applied
as
the
mainstay
of
prenatal
diagnosis
of
OI
.
In
this
series
,
we
report
our
work
of
detecting
OI
using
three
-dimensional
(
3
D
)
US
.
We
reviewed
our
computer
database
of
prenatal
diagnosis
of
OI
at
the
National
Cheng
Kung
University
Hospital
from
April
1996
to
July
2010
.
All
the
cases
were
scanned
by
2
D
and
3
D
US
.
In
total
,
six
cases
of
fetal
OI
were
diagnosed
.
Compared
with
2
D
US
,
3
D
US
can
detect
fetal
OI
precisely
,
and
provide
additional
vivid
illustration
after
various
modes
of
reconstruction
that
2
D
US
can
not
.
In
conclusion
,
3
D
US
may
contribute
significantly
to
the
detection
of
OI
in
utero
and
provide
a
novel
visual
depiction
of
this
defect
after
reconstruction
.
The
technique
may
thus
substantially
assist
in
prenatal
diagnosis
as
well
as
consultations
for
fetal
OI
.
Diseases
Validation
Diseases presenting
"blue sclerae"
symptom
dentinogenesis imperfecta
kabuki syndrome
This symptom has already been validated
