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Prenatal ultrasound findings observed in the Wolf-Hirschhorn syndrome: data from the registry of congenital malformations in Auvergne.
[wolf-hirschhorn syndrome]
Wolf-
Hirschhorn
syndrome
(
WHS
)
is
associated
with
facial
dysmorphism
including
high
forehead
,
high
nasal
bridge
,
hypertelorism
and
severe
mental
retardation
.
WHS
results
from
a
4
p
16
.
3
deletion
.
Only
a
small
number
of
reports
have
been
made
on
the
prenatal
ultrasound
findings
observed
in
WHS
.
H
ere
we
report
our
experience
on
10
cases
of
WHS
ascertained
prenatally
between
1983
and
2009
through
the
CEMC-
Auvergne
registry
of
congenital
malformations
.
The
assumption
that
a
"
Greek
warrior
helmet
"
facies
is
pathognomonic
of
WHS
could
lead
to
misdiagnosis
.
Other
clinical
findings
such
as
severe
and
early
onset
intrauterine
growth
retardation
,
facial
dysmorphism
(
high
forehead
,
high
nasal
bridge
,
low-set
ears
,
micrognathia
,
hypertelorism
)
,
atrial
or
ventricular
septal
defect
,
and
renal
dysplasia
should
help
obstetricians
to
suspect
the
diagnosis
of
WHS
prenatally
.
Diseases
Validation
Diseases presenting
"ventricular septal defect"
symptom
22q11.2 deletion syndrome
cohen syndrome
cowden syndrome
holt-oram syndrome
homocystinuria without methylmalonic aciduria
wolf-hirschhorn syndrome
This symptom has already been validated