Rare Diseases Symptoms Automatic Extraction
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Harlequin ichthyosis: report of one case.
[harlequin ichthyosis]
Harlequin
ichthyosis
(
HI
)
is
the
most
devastating
form
of
skin
disorder
,
which
is
inherited
as
autosomal
recessive
trait
related
to
consanguineous
marriage
.
Although
prenatal
examination
has
become
scheduled
and
convenient
throughout
Taiwan
,
an
unexpected
case
of
HI
in
a
male
premature
infant
born
at
32
weeks
of
gestation
was
presented
.
The
parents
were
healthy
,
neither
relatives
nor
having
history
of
congenital
abnormality
.
We
report
our
management
and
the
massive
impact
left
on
both
parents
.
We
believe
this
is
an
extremely
rare
case
in
Taiwan
.
Diseases
Validation
Diseases presenting
"extremely rare case"
symptom
achondroplasia
aniridia
carcinoma of the gallbladder
coats disease
cowden syndrome
harlequin ichthyosis
proteus syndrome
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