Rare Diseases Symptoms Automatic Extraction
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A random Abstract
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Fibrous tumor of the superior oblique tendon in Proteus syndrome.
[proteus syndrome]
Proteus
syndrome
is
a
disorder
of
patchy
,
or
mosaic
,
postnatal
overgrowth
.
Mosaic
somatic
mutation
of
the
AKT
1
gene
has
been
identified
in
over
90
%
of
individuals
meeting
the
diagnostic
criteria
for
Proteus
syndrome
.
Onset
occurs
in
infancy
and
can
involve
any
tissue
of
the
body
.
The
connective
tissue
and
bone
,
skin
,
central
nervous
system
,
and
the
eye
are
commonly
involved
.
Epibulbar
tumors
,
strabismus
,
and
posterior
segment
involvement
have
previously
been
reported
.
However
,
there
have
not
been
any
reports
of
lesions
affecting
the
extraocular
tendons
.
We
report
a
case
of
Proteus
syndrome
patient
presenting
with
vertical
strabismus
secondary
to
a
fibrous
tumor
within
the
superior
oblique
tendon
.
The
tumor
was
successfully
excised
with
complete
resolution
of
the
strabismus
.
Diseases
Validation
Diseases presenting
"overgrowth"
symptom
achondroplasia
cowden syndrome
dentin dysplasia
hydrocephalus with stenosis of the aqueduct of sylvius
kabuki syndrome
lymphangioleiomyomatosis
megacystis-microcolon-intestinal hypoperistalsis syndrome
proteus syndrome
wolf-hirschhorn syndrome
This symptom has already been validated