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Prenatal sonographic diagnosis of familial Holt-Oram syndrome associated with type B interrupted aortic arch.
[holt-oram syndrome]
We
present
a
rare
case
of
familial
Holt-
Oram
syndrome
diagnosed
sonographically
at
18
weeks
of
gestation
.
The
foetus
had
serious
bilateral
upper
limb
malformations
,
a
ventricular
septal
defect
and
a
type
B
interrupted
aortic
arch
,
while
the
mother
had
bilateral
upper
limb
malformations
only
.
The
pregnancy
was
terminated
.
A
pathological
and
radiological
examination
of
the
foetus
confirmed
the
prenatal
sonographic
findings
.
Although
genetic
investigation
of
TBX
5
mutations
was
not
available
in
our
locality
at
the
time
of
diagnosis
,
the
geneticists
made
a
clinical
diagnosis
of
familial
Holt-
Oram
syndrome
.
The
clinical
features
of
our
case
completely
fulfilled
the
strict
diagnostic
criteria
for
the
syndrome
.
The
cardiac
malformations
most
commonly
associated
with
Holt-
Oram
syndrome
are
atrial
or
ventricular
septal
defects
.
To
the
best
of
our
knowledge
,
a
prenatal
diagnosis
of
Holt-
Oram
syndrome
in
association
with
a
type
B
interrupted
aortic
arch
has
not
been
reported
in
the
English
literature
before
.
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"prenatal diagnosis"
symptom
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