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Prenatal sonographic features of Harlequin ichthyosis.
[harlequin ichthyosis]
Harlequin
ichthyosis
(
HI
)
is
a
severe
and
usually
fatal
congenital
keratinization
disorder
with
autosomal
recessive
inheritance
.
For
over
a
decade
,
prenatal
diagnosis
of
HI
relied
on
fetoscopic
or
sonographically
guided
skin
biopsies
,
and
,
therefore
,
was
limited
to
previously
affected
families
.
Only
a
few
cases
of
prenatal
sonographic
diagnosis
have
been
published
and
the
sonographic
findings
are
variable
.
We
report
a
case
of
HI
,
in
which
the
typical
features
were
detected
during
fetal
life
but
the
condition
remained
undiagnosed
at
35
weeks
'
gestational
age
in
this
pregnancy
complicated
by
premature
rupture
of
membranes
,
oligohydramnios
and
intrauterine
growth
retardation
.
The
documented
prenatal
findings
were
a
flat
profile
with
absent
nose
;
a
large
mouth
,
widely
gaping
open
;
dysplastic
ears
;
abnormal
fixed
position
of
the
hands
;
and
edema
of
thighs
and
feet
;
and
intrauterine
growth
retardation
.
Following
elective
cesarean
section
the
infant
died
of
septicemia
12
days
post-partum
despite
etretinate
and
antibiotic
treatment
.
The
sonographic
features
of
HI
are
discussed
together
with
those
previously
reported
and
an
attempt
is
made
to
delineate
sonographic
markers
of
this
rare
disorder
.
Diseases
Validation
Diseases presenting
"fetal life"
symptom
aromatase deficiency
congenital adrenal hyperplasia
congenital diaphragmatic hernia
congenital toxoplasmosis
harlequin ichthyosis
hirschsprung disease
kallmann syndrome
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