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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
"first report"
symptom
achondroplasia
alexander disease
aniridia
cadasil
canavan disease
child syndrome
cohen syndrome
congenital toxoplasmosis
cowden syndrome
cushing syndrome
cutaneous mastocytosis
cystinuria
dedifferentiated liposarcoma
dentinogenesis imperfecta
dracunculiasis
dystrophic epidermolysis bullosa
epidermolysis bullosa simplex
erdheim-chester disease
esophageal squamous cell carcinoma
fabry disease
familial mediterranean fever
focal myositis
harlequin ichthyosis
hirschsprung disease
hodgkin lymphoma, classical
holt-oram syndrome
homocystinuria without methylmalonic aciduria
inclusion body myositis
junctional epidermolysis bullosa
kabuki syndrome
kindler syndrome
krabbe disease
lamellar ichthyosis
liposarcoma
lymphangioleiomyomatosis
monosomy 21
neonatal adrenoleukodystrophy
neuralgic amyotrophy
oculocutaneous albinism
oligodontia
omenn syndrome
pendred syndrome
pleomorphic liposarcoma
primary hyperoxaluria type 1
pyomyositis
pyruvate dehydrogenase deficiency
scrub typhus
severe combined immunodeficiency
sneddon syndrome
triple a syndrome
typhoid
waldenström macroglobulinemia
werner syndrome
wiskott-aldrich syndrome
x-linked adrenoleukodystrophy
zellweger syndrome
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