Rare Diseases Symptoms Automatic Extraction
Home
A random Abstract
Our Project
Our Team
Congenital heart defects in Kabuki syndrome.
[kabuki syndrome]
Kabuki
syndrome
(
KS
)
is
an
entity
of
multiple
congenital
malformations
with
mental
retardation
with
undetermined
etiology
.
Congenital
heart
defects
are
one
of
the
clinical
manifestations
of
KS
with
insufficient
elucidations
.
Literature
of
congenital
heart
defects
associated
with
KS
was
comprehensively
retrieved
,
collected
and
reviewed
.
The
clinical
features
of
the
congenital
heart
defects
in
the
patients
with
KS
were
summarized
.
Congenital
heart
defects
were
one
of
the
clinical
manifestations
of
KS
with
90
.
6
%
of
the
patients
being
diagnosed
prenatally
or
at
an
early
age
.
Left-sided
obstructions
/
aortic
dilation
and
septal
defects
were
the
fi
rst
two
types
of
anomalies
,
accounting
up
to
46
.
1
%
and
32
.
9
%
,
respectively
.
The
most
common
congenital
heart
defects
were
coarctation
of
the
aorta
,
and
atrial
and
ventricular
septal
defects
.
Fifteen
(
19
.
7
%
)
patients
received
surgical
repair
of
congenital
heart
defects
at
a
mean
age
of
0
.
8
±
1
.
3
years
.
Congenital
heart
defects
are
one
of
the
clinical
manifestations
of
KS
with
90
.
6
%
of
the
patients
being
diagnosed
prenatally
or
at
an
early
age
.
About
20
%
of
the
patients
warranted
surgical
repair
of
the
heart
defects
.
Patients
with
KS
require
close
follow-up
in
terms
of
their
etiology
,
clinical
presentations
and
long
-term
prognosis
.
Diseases
Validation
Diseases presenting
"mental retardation"
symptom
achondroplasia
alexander disease
alpha-thalassemia
aniridia
aromatase deficiency
canavan disease
classical phenylketonuria
coats disease
cohen syndrome
cowden syndrome
cystinuria
dentin dysplasia
familial hypocalciuric hypercalcemia
homocystinuria without methylmalonic aciduria
hydrocephalus with stenosis of the aqueduct of sylvius
kabuki syndrome
kallmann syndrome
lamellar ichthyosis
lymphangioleiomyomatosis
monosomy 21
phenylketonuria
primary hyperoxaluria type 1
proteus syndrome
pyruvate dehydrogenase deficiency
sneddon syndrome
triple a syndrome
wolf-hirschhorn syndrome
zellweger syndrome
This symptom has already been validated