Rare Diseases Symptoms Automatic Extraction
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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
.
Diseases
Validation
Diseases presenting
"ichthyosis"
symptom
child syndrome
dystrophic epidermolysis bullosa
epidermolysis bullosa simplex
harlequin ichthyosis
hirschsprung disease
junctional epidermolysis bullosa
kallmann syndrome
lamellar ichthyosis
This symptom has already been validated