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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
"mental retardation"
symptom
achondroplasia
alexander disease
alpha-thalassemia
aniridia
aromatase deficiency
canavan disease
classical phenylketonuria
coats disease
cohen syndrome
cowden syndrome
cystinuria
dentin dysplasia
familial hypocalciuric hypercalcemia
homocystinuria without methylmalonic aciduria
hydrocephalus with stenosis of the aqueduct of sylvius
kabuki syndrome
kallmann syndrome
lamellar ichthyosis
lymphangioleiomyomatosis
monosomy 21
phenylketonuria
primary hyperoxaluria type 1
proteus syndrome
pyruvate dehydrogenase deficiency
sneddon syndrome
triple a syndrome
wolf-hirschhorn syndrome
zellweger syndrome
This symptom has already been validated