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Achondroplasia in children: correlation of ventriculomegaly, size of foramen magnum and jugular foramina, and emissary vein enlargement.
[achondroplasia]
Achondroplasia
is
a
skeletal
dysplasia
with
diminished
growth
of
the
skull
base
secondary
to
defective
enchondral
bone
formation
.
This
leads
to
narrowing
of
the
foramen
magnum
and
jugular
foramina
,
which
further
leads
to
ventricular
dilatation
and
prominence
of
the
emissary
veins
.
The
primary
goal
of
our
study
was
to
determine
a
correlation
between
the
degree
of
ventricular
dilatation
,
jugular
foramina
and
foramen
magnum
narrowing
,
as
well
as
emissary
vein
enlargement
.
Conventional
T
2
-
weighted
MR
images
were
evaluated
for
surface
area
of
the
foramen
magnum
and
jugular
foramina
,
ventricular
dilatation
,
and
emissary
veins
enlargement
in
16
achondroplasia
patients
and
16
age-matched
controls
.
Ratios
were
calculated
for
the
individual
parameters
using
median
values
from
age-matched
control
groups
to
avoid
age
as
a
confounder
.
Compared
to
age-matched
controls
,
in
children
with
achondroplasia
,
the
surface
area
of
the
foramen
magnum
(
median
0
.
50
Â
cm
(
2
)
,
range
0
.
23
-
1
.
37
Â
cm
(
2
)
vs
.
3
.
14
Â
cm
(
2
)
,
1
.
83
-
6
.
68
Â
cm
(
2
)
,
p
 
<
 
0
.
001
)
and
jugular
foramina
(
median
0
.
02
Â
cm
(
2
)
,
range
0
-
0
.
10
Â
cm
(
2
)
vs
.
0
.
21
Â
cm
(
2
)
,
0
.
03
-
0
.
61
Â
cm
(
2
)
,
p
 
<
 
0
.
001
)
were
smaller
,
whereas
ventricular
dilatation
(
0
.
28
,
0
.
24
-
0
.
4
vs
.
0
.
26
,
0
.
21
-
0
.
28
,
p
 
<
 
0
.
001
)
and
enlargement
of
emissary
veins
(
6
,
0
-
11
vs
.
0
,
p
 
<
 
0
.
001
)
were
higher
.
Amongst
the
patients
,
Spearman
correlation
and
multiple
regression
analysis
did
not
reveal
correlation
for
severity
between
the
individual
parameters
.
Our
study
suggests
that
in
children
with
achondroplasia
,
(
1
)
the
variation
in
ventricular
dilatation
may
be
related
to
an
unquantifiable
interdependent
relationship
of
emissary
vein
enlargement
,
venous
channel
narrowing
,
and
foramen
magnum
compression
and
(
2
)
stable
ventricular
size
facilitated
by
interdependent
factors
likely
obviates
the
need
for
ventricular
shunt
placement
.
Diseases
Validation
Diseases presenting
"skeletal dysplasia"
symptom
achondroplasia
aromatase deficiency
cohen syndrome
dentinogenesis imperfecta
gm1 gangliosidosis
oligodontia
This symptom has already been validated
