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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
.