Rare Diseases Symptoms Automatic Extraction
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A random Abstract
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Proteus syndrome and hypothyroidism. An unusual association.
[proteus syndrome]
We
present
a
case
of
a
3
½
-
year
-old
girl
diagnosed
as
Proteus
syndrome
with
severe
cosmetic
disfigurement-
macrodactyly
,
hemi-
hypertrophy
of
the
face
and
limbs
,
megalencephaly
,
lymph
edema
of
both
hands
and
feet
along
with
severe
global
developmental
delay
.
She
was
found
to
have
severe
recalcitrant
epilepsy
and
also
primary
hypothyroidism
;
the
association
of
which
is
not
mentioned
in
the
previous
literature
.
Diseases
Validation
Diseases presenting
"epilepsy"
symptom
22q11.2 deletion syndrome
adrenomyeloneuropathy
alexander disease
canavan disease
classical phenylketonuria
cohen syndrome
cowden syndrome
familial hypocalciuric hypercalcemia
gm1 gangliosidosis
hereditary cerebral hemorrhage with amyloidosis
hirschsprung disease
homocystinuria without methylmalonic aciduria
kabuki syndrome
locked-in syndrome
lymphangioleiomyomatosis
monosomy 21
neonatal adrenoleukodystrophy
pendred syndrome
phenylketonuria
proteus syndrome
pyruvate dehydrogenase deficiency
sneddon syndrome
wolf-hirschhorn syndrome
zellweger syndrome
This symptom has already been validated