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[Cohen syndrome. A new case and review of the literature].
[cohen syndrome]
We
report
the
case
of
a
12
-
year
-old
child
suffering
from
mild
mental
retardation
,
hypotonia
,
long
hands
with
tapering
fingers
,
microcephaly
,
truncal
obesity
,
particular
facial
features
.
The
association
of
these
abnormalities
has
been
known
as
Cohen
Syndrome
since
1973
.
Such
a
dysmorphic
syndrome
is
usually
inherited
as
an
autosomal
recessive
trait
whose
gene
has
not
been
yet
localized
.
There
is
no
biological
marker
and
the
diagnosis
is
made
only
on
a
clinical
basis
.
The
diagnosis
is
quite
difficult
because
of
the
intrafamiliar
variation
and
the
lack
of
a
symptom
present
in
100
%
of
the
cases
.
From
the
analysis
of
the
literature
it
proves
that
the
more
frequent
symptoms
are
:
mental
retardation
,
open
mouth
,
short
philtrum
,
high
palate
,
hypotonia
.
Because
of
the
diagnostic
difficulties
it
is
possible
that
this
syndrome
was
underestimate
.
Moreover
,
it
is
usually
diagnosed
too
late
,
(
mean
age
:
12
,
9
)
.
Therefore
,
we
think
necessary
to
consider
the
possibility
of
Cohen
Syndrome
in
the
case
of
every
mental
retardation
of
unknown
cause
.
Diseases
Validation
Diseases presenting
"tapering fingers"
symptom
cohen syndrome
This symptom has already been validated