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Three-dimensional sonographic findings in congenital (harlequin) ichthyosis.
[harlequin ichthyosis]
Harlequin
ichthyosis
is
a
lethal
autosomal
recessive
disorder
characterized
by
an
extremely
thickened
keratin
layer
of
skin
,
flattened
ears
,
and
diffuse
platelike
scales
.
Prenatal
sonographic
diagnosis
has
been
described
,
with
findings
of
a
persistently
open
mouth
,
echogenic
amniotic
fluid
,
and
fixed
flexion
of
the
extremities
.
Here
we
describe
a
case
of
harlequin
ichthyosis
in
which
the
syndromic
features
were
shown
best
on
three
-dimensional
(
3
D
)
and
four
-dimensional
(
4
D
)
real-time
sonography
.
