Rare Diseases Symptoms Automatic Extraction
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A random Abstract
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Agenesis of the corpus callosum, camptodactyly and obesity.
[cohen syndrome]
We
report
a
16
-
year
-old
girl
with
agenesis
of
the
corpus
callosum
,
congenital
heart
disease
(
ventricular
septal
defect
and
abnormal
venous
return
)
,
5
th
digit
camptodactyly
and
obesity
,
born
to
first
cousin
Italian
parents
.
Although
this
child
shares
features
with
acrocallosal
syndrome
and
Camera-
Marugo-
Cohen
syndrome
,
we
think
that
this
combination
of
anomalies
allows
the
delineation
of
a
new
MCA
/
MR
syndrome
,
possibly
recessively
inherited
.
Diseases
Validation
Diseases presenting
"agenesis of the corpus callosum"
symptom
cohen syndrome
hirschsprung disease
hydrocephalus with stenosis of the aqueduct of sylvius
pyruvate dehydrogenase deficiency
This symptom has already been validated