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Radial longitudinal deficiency: the incidence of associated medical and musculoskeletal conditions.
[holt-oram syndrome]
Radial
longitudinal
deficiency
(
RLD
)
is
associated
with
certain
syndromes
and
medical
and
musculoskeletal
conditions
.
The
purpose
of
this
investigation
was
to
evaluate
the
incidence
of
these
conditions
with
RLD
.
A
comprehensive
chart
review
identified
patients
with
RLD
and
a
complete
medical
record
.
These
charts
were
evaluated
for
the
presence
of
associated
medical
and
musculoskeletal
conditions
and
biographic
information
on
gestation
,
delivery
,
and
family
history
.
A
total
of
164
patients
with
245
affected
extremities
were
identified
;
138
patients
had
radius
abnormalities
and
26
patients
had
isolated
thumb
hypoplasia
.
Twenty
-
five
patients
had
thrombocytopenia
absent
radius
syndrome
;
22
patients
had
vertebral
,
anal
,
cardiac
,
tracheoesophageal
,
renal
,
and
limb
abnormalities
association
;
7
patients
had
Holt-
Oram
syndrome
;
and
1
patient
had
Fanconi
anemia
.
There
were
32
patients
with
cardiac
abnormalities
and
60
patients
with
spinal
or
lower-extremity
musculoskeletal
abnormalities
.
The
percentage
of
patients
with
associated
abnormalities
increased
with
an
increasing
severity
of
RLD
.
One
hundred
two
of
the
138
patients
with
types
I
through
V
RLD
had
associated
medical
or
musculoskeletal
abnormalities
.
In
contrast
,
only
9
of
26
patients
with
an
isolated
thumb
hypoplasia
(
type
0
RLD
)
had
associated
abnormalities
.
The
high
incidence
of
associated
medical
and
musculoskeletal
abnormalities
in
patients
with
RLD
emphasizes
the
importance
of
a
complete
assessment
including
a
complete
musculoskeletal
examination
,
cardiac
auscultation
,
complete
blood
count
,
echocardiogram
,
renal
ultrasound
,
and
spinal
radiographs
.
Although
approximately
one
third
of
patients
in
this
investigation
had
a
syndrome
commonly
associated
with
RLD
,
most
patients
with
RLD
types
I
through
V
had
an
additional
medical
or
musculoskeletal
anomaly
.
Patients
with
type
0
RLD
were
less
likely
to
have
comorbidities
.
Diseases
Validation
Diseases presenting
"rld"
symptom
holt-oram syndrome
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