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Short foot length: a diagnostic pointer for harlequin ichthyosis.
[harlequin ichthyosis]
Among
the
fetal
skin
disorders
,
harlequin
ichthyosis
is
the
one
that
has
specific
sonographic
features
in
the
antenatal
period
.
A
few
cases
of
antenatal
diagnosis
of
harlequin
ichthyosis
with
typical
facial
features
of
ectropion
and
eclabium
have
been
described
.
The
manifestation
of
the
phenotype
is
usually
in
the
third
trimester
.
Fetal
skin
biopsy
can
be
done
in
the
late
second
trimester
for
diagnosing
fetal
skin
disorders
.
We
aimed
to
see
whether
a
short
foot
length
could
be
a
pointer
for
the
diagnosis
of
harlequin
ichthyosis
in
the
second
trimester
before
the
full
phenotypic
manifestation
,
which
is
usually
seen
in
the
third
trimester
.
We
report
3
cases
of
harlequin
ichthyosis
,
2
of
them
diagnosed
in
the
third
trimester
with
abnormal
facial
features
and
another
second
-trimester
sonographic
diagnosis
based
on
short
foot
length
,
without
eclabium
and
ectropion
.
In
all
3
cases
,
the
foot
length
was
considerably
smaller
than
the
femur
length
,
especially
in
the
third
case
,
in
which
the
foot
length
was
smaller
than
the
femur
length
before
the
manifestation
of
the
typical
features
of
harlequin
ichthyosis
.
Fetal
foot
length
may
be
an
important
and
probably
the
first
marker
seen
in
the
second
trimester
for
the
diagnosis
of
harlequin
ichthyosis
.
Diseases
Validation
Diseases presenting
"ichthyosis in the second trimester before the full phenotypic manifestation"
symptom
harlequin ichthyosis
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