Rare Diseases Symptoms Automatic Extraction
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A random Abstract
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A new case of MOMO syndrome.
[kabuki syndrome]
MOMO
syndrome
,
a
condition
described
in
three
earlier
patients
,
is
a
constellation
of
macrosomia
,
obesity
,
macrocephaly
,
and
ocular
abnormalities
as
the
main
findings
.
We
report
a
6
-
year
-old
child
with
these
findings
as
well
as
significant
developmental
issues
,
delayed
bone
age
,
clavicular
pseudoarthrosis
,
and
straight
femurs
.
We
believe
that
this
child
should
be
considered
as
having
MOMO
syndrome
.
Careful
consideration
of
his
facial
features
shows
some
overlap
with
Kabuki
syndrome
.
Description
of
this
case
may
help
to
better
elucidate
the
clinical
features
of
MOMO
syndrome
.
Diseases
Validation
Diseases presenting
"delayed bone age, clavicular pseudoarthrosis"
symptom
kabuki syndrome
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