Rare Diseases Symptoms Automatic Extraction
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Harlequin ichthyosis in a neonate born with assisted reproductive technology: a case report.
[harlequin ichthyosis]
Harlequin
ichthyosis
is
a
rare
and
the
most
severe
form
of
congenital
ichthyosis
.
Although
prenatal
diagnosis
isdifficult
for
this
disorder
,
recently
,
this
obstacle
has
markedly
improved
with
the
use
of
DNA-based
prenataldiagnosis
.
Here
in
,
we
presented
a
neonate
with
harlequin
ichthyosis
born
by
assisted
reproductive
technology
(
ART
)
.
In
this
case
,
the
diagnosis
of
harlequin
ichthyosis
was
not
established
by
conventional
prenatal
screening
.
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