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[Holt-Oram syndrome--the importance of early diagnosis and interdisciplinary approach. A case report].
[holt-oram syndrome]
We
describe
clinical
presentation
in
a
male
newborn
baby
who
presented
with
thumb
aplasia
,
forearm
hypoplasia
and
secundum
atrial
septal
defect
(
ASD
II
)
.
The
child
has
no
other
bone
anomalies
or
facial
dysmorphism
.
The
ultrasound
morphology
of
the
brain
is
normal
.
He
has
patent
ductus
arteriosus
,
without
abnormalities
in
the
ECG
record
.
Complete
blood
count
(
CBC
)
is
normal
.
In
the
spectrum
of
hereditary
diseases
from
the
group
"
heart
-
hand
"
,
clinical
presentation
in
our
patient
corresponds
to
Holt-
Oram
syndrome
(
HOS
)
.
The
role
of
the
neonatologist
in
case
of
anomalies
of
the
thumb
or
upper
limb
,
is
to
exclude
possible
heart
failure
and
instruct
parents
about
timely
,
interdisciplinary
care
for
the
child
.
