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Prenatal diagnosis of Harlequin ichthyosis presenting as distal arthrogryposis using three-dimensional ultrasound.
[harlequin ichthyosis]
We
describe
a
case
of
Harlequin
Icthyosis
where
the
main
2
D
and
3
D
ultrasound
findings
were
digital
contractures
as
opposed
to
the
more
commonly
described
severe
facial
dysmorphisms
.
A
prenatal
finding
of
distal
arthrogryposis
can
therefore
include
harlequin
icthyosis
as
a
differential
diagnosis
,
where
3
D
ultrasound
may
then
disclose
the
facial
features
more
commonly
associated
with
the
condition
.