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Cohen syndrome: essential features, natural history, and heterogeneity.
[cohen syndrome]
This
article
elucidates
the
clinical
picture
in
Cohen
syndrome
(
MIM
216550
)
,
an
autosomal
recessive
disorder
that
is
overrepresented
in
Finland
.
The
diagnosis
is
based
on
the
typical
clinical
picture
:
nonprogressive
psychomotor
retardation
,
motor
clumsiness
and
microcephaly
,
typical
facial
features
,
childhood
hypotonia
and
hyperextensibility
of
the
joints
,
ophthalmologic
findings
of
retinochoroidal
dystrophy
and
myopia
in
patients
over
5
years
of
age
,
and
granulocytopenia
.
In
a
nationwide
study
,
29
Finnish
patients
were
investigated
.
Magnetic
resonance
images
of
the
brain
with
quantitative
structure
analyses
revealed
a
relatively
enlarged
corpus
callosum
(
CC
)
.
The
youngest
patients
had
normal
EEGs
,
while
all
others
had
low
-voltage
EEGs
.
Of
the
patients
,
22
%
had
profound
,
61
%
severe
,
6
%
moderate
,
and
11
%
mild
retardation
.
In
an
adaptive
behavior
scale
(
AAMD
)
,
patients
had
high
scores
in
the
positive
domains
(
self-direction
,
responsibility
,
and
socialization
)
,
whereas
maladaptive
behavior
was
almost
lacking
.
Only
the
youngest
patients
had
unimpaired
visual
function
.
Vision
started
to
deteriorate
early
but
slowly
.
Progressive
myopia
and
retinochoroidal
dystrophy
were
found
in
all
of
the
patients
over
5
years
of
age
.
All
of
the
patients
had
isolated
granulocytopenia
.
The
heart
anatomy
was
normal
.
However
,
decreased
left
ventricular
function
with
advancing
age
was
found
.
No
significant
endocrine
abnormalities
were
discovered
.
Fingers
were
slender
but
short
,
with
a
typical
metacarpophalangeal
pattern
profile
.
The
manifestations
vary
at
different
ages
.
The
Finnish
Cohen
patients
are
clinically
highly
homogeneous
,
their
disease
gene
being
located
on
chromosome
8
.
Heterogeneity
probably
exists
among
other
patients
claimed
to
have
Cohen
syndrome
.
Diseases
Validation
Diseases presenting
"childhood hypotonia and hyperextensibility of the joints"
symptom
cohen syndrome
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