Rare Diseases Symptoms Automatic Extraction
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[Kabuki syndrome].
[kabuki syndrome]
Kabuki
syndrome
(
OMIM
:
#
147
920
)
presents
as
large
palpebral
fissures
with
eversion
of
the
lateral
third
of
the
lower
eyelids
,
depressed
nasal
bridge
,
arched
eyebrows
,
dysplastic
ears
and
in
most
cases
,
with
mental
retardation
.
Patients
have
minor
and
major
abnormalities
in
different
systems
.
Its
genetic
basis
is
heterogeneous
,
but
recently
has
been
associated
with
mutations
in
gen
MLL
2
.
We
present
two
patients
with
clinical
features
compatibles
with
the
syndrome
,
mainly
:
large
palpebral
fissures
with
eversion
of
the
lateral
third
of
the
lower
eyelids
,
depressed
nasal
bridge
,
arched
eyebrows
,
flat
nose
,
persistent
fingertip
pads
,
cardiopathies
and
renal
anomalies
.
The
diagnosis
of
this
condition
is
clinical
.
The
characteristics
in
the
cases
are
compared
with
the
patients
reported
in
the
literature
.
The
importance
of
early
diagnosis
is
to
provide
preventive
management
and
an
appropriate
genetic
counseling
for
the
family
.
Diseases
Validation
Diseases presenting
"large palpebral fissures"
symptom
kabuki syndrome
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