Rare Diseases Symptoms Automatic Extraction
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Hypoplastic left heart syndrome in patients with Kabuki syndrome.
[kabuki syndrome]
The
association
of
cardiac
defects
with
Kabuki
syndrome
has
been
well
described
.
The
majority
of
these
defects
are
isolated
shunt
lesions
,
conotruncal
abnormalities
,
or
various
forms
of
arch
obstruction
.
This
report
describes
a
series
of
three
patients
with
hypoplastic
left
heart
syndrome
and
Kabuki
syndrome
.
The
series
illustrates
the
full
spectrum
of
left-sided
obstructive
lesions
and
expands
the
phenotype
of
cardiac
defects
associated
with
Kabuki
syndrome
.
Diseases
Validation
Diseases presenting
"cardiac defects"
symptom
22q11.2 deletion syndrome
achondroplasia
child syndrome
hirschsprung disease
holt-oram syndrome
kabuki syndrome
kallmann syndrome
monosomy 21
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