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Cohen syndrome: evaluation of its cardiac, endocrine and radiological features.
[cohen syndrome]
Cohen
syndrome
(
MIM
no
.
216550
)
is
an
autosomal
recessive
disorder
with
a
typical
clinical
picture
.
Since
the
first
report
,
most
publications
have
represented
single
case
reports
.
In
this
study
,
our
aim
was
to
describe
cardiac
,
endocrine
and
radiological
abnormalities
in
22
Cohen
patients
of
Finnish
descent
.
Detailed
investigations
of
the
heart
revealed
the
anatomy
of
the
heart
to
be
normal
with
no
evidence
for
clinically
significant
mitral
prolapse
.
However
,
a
decreased
left
ventricular
function
with
advancing
age
was
identified
.
No
significant
endocrine
abnormalities
were
found
at
the
examination
of
pituitary
,
adrenal
and
thyroid
function
.
The
height
was
either
normal
or
patients
were
moderately
short
(
mean
height
standard
deviation
score
(
SDS
)
-
2
)
at
all
ages
,
associated
,
however
,
often
with
the
marked
kyphosis
.
Truncal
obesity
was
seen
in
4
/
22
patients
.
X-
rays
of
the
chest
,
lumbar
and
thoracic
spine
,
long
bones
,
ankles
and
metacarpophalangeal
pattern
profiles
revealed
kyphosis
,
scoliosis
and
calcaneo
planovalgus
as
common
features
.
Fingers
of
these
patients
were
slender
but
short
with
a
characteristic
metacarpophalangeal
pattern
profile
.
Diseases
Validation
Diseases presenting
"thyroid function"
symptom
cohen syndrome
congenital adrenal hyperplasia
erythropoietic protoporphyria
pendred syndrome
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