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MRI of the brain in the Cohen syndrome: a relatively large corpus callosum in patients with mental retardation and microcephaly.
[cohen syndrome]
Our
purpose
was
to
perform
the
first
systematic
brain
magnetic
resonance
imaging
(
MRI
)
study
of
a
substantial
number
of
Cohen
syndrome
(
MIM
n
:
o
216550
)
patients
.
18
Cohen
patients
and
26
healthy
volunteers
were
examined
by
MRI
(
1
.
0
T
)
.
All
Cohen
patients
had
essential
features
of
this
syndrome
:
typical
facial
and
structural
features
,
mental
retardation
,
microcephaly
,
ophthalmologic
symptoms
,
granulocytopenia
and
cheerful
psychic
disposition
.
All
our
patients
belong
to
the
recently
published
study
of
refined
mapping
of
the
Cohen
syndrome
gene
by
linkage
disequilibrium
.
As
visual
analysis
of
MR
images
revealed
an
impression
of
a
large
corpus
callosum
(
CC
)
,
quantitative
analysis
was
performed
.
Sagittal
diameter
of
the
body
of
the
CC
was
larger
than
that
of
controls
(
p
=
0
.
02
)
,
whereas
all
sagittal
diameters
of
the
brain
stem
were
markedly
smaller
(
p
<
0
.
0001
)
,
as
was
the
midline
internal
skull
surface
(
MISS
)
(
p
<
0
.
0001
)
.
The
CC
surface
did
not
significantly
differ
from
that
of
controls
significantly
.
Our
main
finding
,
a
relatively
enlarged
corpus
callosum
,
has
not
previously
been
reported
to
associate
with
mental
retardation
.
Though
MRI
alone
can
not
confirm
the
diagnosis
and
no
definite
measurements
can
be
recommended
for
clinical
use
,
any
clinical
suspicion
of
this
syndrome
receives
reinforcement
through
MRI
:
a
relatively
enlarged
corpus
callosum
in
a
microcephalic
head
and
normal
signal
intensities
of
the
grey
and
white
matters
.
Diseases
Validation
Diseases presenting
"relatively enlarged corpus callosum"
symptom
cohen syndrome
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