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Prenatal diagnosis of Holt-Oram syndrome: role of 3-D ultrasonography.
[holt-oram syndrome]
Holt-
Oram
syndrome
(
HOS
)
is
an
autosomal
dominant
disorder
consisting
of
a
congenital
heart
defect
in
combination
with
upper
limb
abnormalities
.
This
report
presents
the
ultrasonographic
follow-up
of
a
fetus
at
risk
for
this
syndrome
.
An
abnormal
four
-chamber
view
of
the
heart
and
slight
shortening
of
the
forearm
were
found
by
prenatal
ultrasound
performed
at
16
weeks
of
gestation
.
At
25
weeks
of
gestation
,
detailed
sonographic
examination
clearly
revealed
abnormalities
in
the
upper
limbs
and
heart
of
the
fetus
.
At
39
weeks
of
gestation
,
spontaneous
labor
and
delivery
produced
a
female
infant
weighting
2940
g
.
Postnatal
examination
of
the
infant
confirmed
the
prenatal
sonographic
findings
.
3
-
D
ultrasound
has
an
important
role
in
prenatal
diagnosis
of
HOS
,
which
is
essential
for
proper
genetic
counseling
.
Diseases
Validation
Diseases presenting
"abnormalities in the upper limbs"
symptom
holt-oram syndrome
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