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The Cohen syndrome: does mottled retina separate a Finnish and a Jewish type?
[cohen syndrome]
A
new
familial
cases
of
the
Cohen
syndrome
in
two
brothers
of
one
-
half
second
-cousin
parents
is
reported
.
Typical
clinical
manifestations
of
the
syndrome
;
i
.
e
.
,
mental
deficiency
,
hypotonia
,
characteristic
facial
appearance
,
long
,
narrow
hands
and
feet
with
elongated
fingers
,
and
mottled
retinae
were
present
in
both
patients
.
Both
patients
also
had
leukopenia
.
Clinical
manifestations
of
the
Cohen
syndrome
in
patients
are
highly
variable
,
and
mottled
retina
has
been
observed
in
22
of
87
patients
(
25
%
)
.
However
,
an
association
of
mottled
retina
in
patients
with
the
Cohen
syndrome
is
likely
to
be
related
to
the
families
and
ethnic
groups
.
Among
19
familial
cases
,
mottled
retina
was
observed
in
all
affected
sibs
from
five
families
,
but
in
13
families
none
of
the
affected
sibs
had
the
mottled
retina
.
All
Finnish
patients
had
the
mottled
retina
,
but
this
was
noted
in
only
one
of
39
Jewish
patients
.
Based
on
these
data
,
we
hypothesize
that
two
alleles
at
the
gene
locus
for
the
Cohen
syndrome
exhibit
different
clinical
manifestations
:
one
is
a
Finnish
type
with
mottled
retina
,
and
the
other
is
a
Jewish
type
without
retinal
anomalies
.
Diseases
Validation
Diseases presenting
"hypotonia"
symptom
canavan disease
cohen syndrome
homocystinuria without methylmalonic aciduria
kabuki syndrome
monosomy 21
pyruvate dehydrogenase deficiency
wolf-hirschhorn syndrome
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