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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
"psychomotor retardation"
symptom
alexander disease
aniridia
canavan disease
cohen syndrome
kabuki syndrome
monosomy 21
neonatal adrenoleukodystrophy
oculocutaneous albinism
pyruvate dehydrogenase deficiency
zellweger syndrome
This symptom has already been validated