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Dilated vein of Galen in Kabuki syndrome.
[kabuki syndrome]
Kabuki
syndrome
(
KS
)
comprises
multiple
congenital
abnormalities
and
is
characterized
by
a
peculiar
facial
appearance
,
dermatoglyphic
anomalies
,
mental
retardation
,
skeletal
abnormalities
and
postnatal
growth
retardation
.
We
describe
the
case
of
a
23
-
month
-old
boy
with
the
typical
features
of
KS
who
had
several
malformations
in
the
veins
of
the
brain
,
which
had
not
previously
been
described
in
patients
with
this
syndrome
.
The
MRI
phlebogram
of
this
patient
showed
that
the
vein
of
Galen
was
dilated
and
that
it
drained
anomalously
.
The
sinus
rectus
was
abnormal
and
the
longitudinal
inferior
venous
sinus
was
absent
.
In
view
of
this
finding
,
together
with
the
fact
that
structural
brain
abnormalities
in
KS
are
more
frequent
than
in
other
congenital
syndromes
with
multiple
malformations
,
we
propose
that
MRI
be
used
in
the
diagnostic
work-up
of
all
patients
with
KS
.
Diseases
Validation
Diseases presenting
"we propose that mri be used in the diagnostic work-up of all patients with ks"
symptom
kabuki syndrome
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