Rare Diseases Symptoms Automatic Extraction
Home
A random Abstract
Our Project
Our Team
Cohen syndrome: the clinical symptoms and stigmata at a young age.
[cohen syndrome]
We
present
the
clinical
findings
and
follow-up
data
of
four
female
children
with
Cohen
syndrome
,
two
sisters
and
one
pair
of
dizygotic
female
twins
.
The
most
characteristic
findings
from
birth
on
were
as
follows
:
1
.
Low
-normal
growth
parameters
at
birth
.
2
.
Mild
hypotonia
and
evidence
of
progressive
microcephaly
with
narrow
forehead
in
the
first
year
of
life
.
3
.
Neutropenia
was
present
from
the
beginning
,
remained
unchanged
over
the
years
and
is
not
associated
with
higher
susceptibility
to
infections
.
4
.
Autistic
behavior
and
severe
psychomotor
retardation
up
to
the
age
of
2
years
.
At
that
age
the
ocular
anomalies
with
high
-grade
myopia
and
chorioretinal
dystrophy
were
diagnosed
.
Correction
of
the
myopia
resulted
in
a
marked
catch-up
in
psychomotor
development
.
5
.
After
the
age
of
6
years
facial
stigmata
became
more
evident
with
short
philtrum
of
the
upper
lip
and
broad
and
large
upper
incisors
.
6
.
Tendency
to
truncular
obesity
with
rest
hypotonia
and
poor
muscle
development
after
the
ages
of
6
to
8
years
.
The
clinical
findings
and
follow-up
data
in
the
present
four
children
with
Cohen
syndrome
illustrate
that
the
diagnosis
of
Cohen
syndrome
in
infancy
is
very
difficult
.
Diseases
Validation
Diseases presenting
"obesity"
symptom
acute rheumatic fever
adrenal incidentaloma
aniridia
aromatase deficiency
carcinoma of the gallbladder
cohen syndrome
congenital adrenal hyperplasia
cushing syndrome
cystinuria
esophageal adenocarcinoma
esophageal carcinoma
esophageal squamous cell carcinoma
familial hypocalciuric hypercalcemia
familial mediterranean fever
heparin-induced thrombocytopenia
kabuki syndrome
monosomy 21
phenylketonuria
primary hyperoxaluria type 1
sneddon syndrome
werner syndrome
wolf-hirschhorn syndrome
x-linked adrenoleukodystrophy
This symptom has already been validated