Rare Diseases Symptoms Automatic Extraction
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Prenatal diagnosis of congenital harlequin ichthyosis with 2D, 3D, and 4D ultrasonography.
[harlequin ichthyosis]
Harlequin
fetus
is
a
rare
and
mostly
fatal
form
of
congenital
ichthyosis
that
can
be
diagnosed
by
fetal
skin
biopsy
in
patients
with
a
family
history
of
the
disease
.
More
recently
DNA
analysis
of
amniocentesis
and
chorion
villus
sampling
materials
have
also
been
utilized
.
We
report
a
case
of
prenatally
diagnosed
congenital
ichthyosis
with
no
previous
family
history
.
Diagnosis
was
mainly
achieved
by
3
D
and
4
D
ultrasonography
findings
such
as
diffuse
scaling
of
the
skin
,
digital
contractures
,
flattened
rudimentary
external
ear
,
nasal
hypoplasia
,
everted
eyelids
,
typical
fish
mouth
appearance
,
macroglossia
,
and
persistently
open
fetal
mouth
.
Diseases
Validation
Diseases presenting
"macroglossia"
symptom
focal myositis
harlequin ichthyosis
lamellar ichthyosis
This symptom has already been validated