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Radial longitudinal deficiency.
[holt-oram syndrome]
Radial
longitudinal
deficiency
encompasses
a
spectrum
of
upper
limb
dysplasias
and
hypoplasias
.
The
bony
abnormalities
of
the
thumb
and
radius
are
the
most
pronounced
,
but
deficiencies
of
the
accompanying
muscles
,
nerves
,
vessels
,
and
joints
also
greatly
influence
the
ultimate
upper
extremity
function
.
The
striking
clinical
presentation
of
the
involved
upper
limb
is
often
more
obvious
than
the
potentially
life-threatening
associated
systemic
conditions
.
All
children
presenting
with
radial
longitudinal
deficiency
,
regardless
of
severity
,
require
a
renal
ultrasound
,
echocardiogram
,
and
complete
blood
count
to
evaluate
the
potential
for
associated
systemic
conditions
;
these
include
Fanconi
's
anemia
,
the
Holt-
Oram
syndrome
,
and
the
VATER
(
vertebral
anomalies
,
anal
atresia
,
tracheoesophageal
fistula
,
esophageal
atresia
,
renal
agenesis
)
syndrome
or
VACTERL
(
vertebral
anomalies
,
anal
atresia
,
cardiac
abnormalities
,
tracheoesophageal
fistula
,
renal
agenesis
,
and
limb
defects
)
association
.
The
overall
health
of
the
child
,
as
well
as
the
severity
of
the
osseous
and
soft
-tissue
deformities
of
the
affected
limb
,
guides
the
long
-term
treatment
plans
.
Diseases
Validation
Diseases presenting
"cardiac abnormalities"
symptom
22q11.2 deletion syndrome
holt-oram syndrome
hydrocephalus with stenosis of the aqueduct of sylvius
inclusion body myositis
kabuki syndrome
monosomy 21
pyruvate dehydrogenase deficiency
wiskott-aldrich syndrome
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