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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
.
Diseases
Validation
Diseases presenting
"facial features"
symptom
22q11.2 deletion syndrome
alpha-thalassemia
cadasil
cohen syndrome
dentinogenesis imperfecta
gm1 gangliosidosis
harlequin ichthyosis
hirschsprung disease
homocystinuria without methylmalonic aciduria
kabuki syndrome
kallmann syndrome
monosomy 21
neuralgic amyotrophy
severe combined immunodeficiency
triple a syndrome
wolf-hirschhorn syndrome
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