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Bilateral macrostomia associated with aqueductal stenosis and glial heterotopias.
[hydrocephalus with stenosis of the aqueduct of sylvius]
We
report
on
an
Italian
boy
,
born
to
normal
and
nonconsanguineous
parents
with
a
prenatal
diagnosis
of
ventriculomegaly
and
subependymal
glial
heterotopias
.
At
birth
bilateral
macrostomia
was
diagnosed
without
other
evident
facial
anomalies
.
Magnetic
resonance
imaging
(
MRI
)
showed
triventricular
hydrocephalus
and
aqueductal
stenosis
and
confirmed
the
nodules
of
glial
heterotopia
.
The
bilateral
macrostomia
was
surgically
corrected
with
the
vermilion
square
flap
method
and
W-
plasty
technique
and
follow
up
MRI
at
6
months
showed
mild
increase
of
ventricular
dilatation
without
signs
of
active
hydrocephalus
.
The
association
between
macrostomia
and
hydrocephalus
has
been
reported
only
in
rare
cases
of
complex
malformative
syndromes
but
never
with
isolated
macrostomia
.