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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
"congenital malformations"
symptom
aniridia
congenital diaphragmatic hernia
congenital toxoplasmosis
focal myositis
hirschsprung disease
homocystinuria without methylmalonic aciduria
hydrocephalus with stenosis of the aqueduct of sylvius
kabuki syndrome
monosomy 21
oligodontia
wolf-hirschhorn syndrome
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