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Changing facial phenotype in Cohen syndrome: towards clues for an earlier diagnosis.
[cohen syndrome]
Cohen
syndrome
(
CS
)
is
a
rare
autosomal
recessive
condition
caused
by
mutations
and
/
or
large
rearrangements
in
the
VPS
13
B
gene
.
CS
clinical
features
,
including
developmental
delay
,
the
typical
facial
gestalt
,
chorioretinal
dystrophy
(
CRD
)
and
neutropenia
,
are
well
described
.
CS
diagnosis
is
generally
raised
after
school
age
,
when
visual
disturbances
lead
to
CRD
diagnosis
and
to
VPS
13
B
gene
testing
.
This
relatively
late
diagnosis
precludes
accurate
genetic
counselling
.
The
aim
of
this
study
was
to
analyse
the
evolution
of
CS
facial
features
in
the
early
period
of
life
,
particularly
before
school
age
(
6
years
)
,
to
find
clues
for
an
earlier
diagnosis
.
Photographs
of
17
patients
with
molecularly
confirmed
CS
were
analysed
,
from
birth
to
preschool
age
.
By
comparing
their
facial
phenotype
when
growing
,
we
show
that
there
are
no
special
facial
characteristics
before
1
year
.
However
,
between
2
and
6
years
,
CS
children
already
share
common
facial
features
such
as
a
short
neck
,
a
square
face
with
micrognathia
and
full
cheeks
,
a
hypotonic
facial
appearance
,
epicanthic
folds
,
long
ears
with
an
everted
upper
part
of
the
auricle
and
/
or
a
prominent
lobe
,
a
relatively
short
philtrum
,
a
small
and
open
mouth
with
downturned
corners
,
a
thick
lower
lip
and
abnormal
eye
shapes
.
These
early
transient
facial
features
evolve
to
typical
CS
facial
features
with
aging
.
These
observations
emphasize
the
importance
of
ophthalmological
tests
and
neutrophil
count
in
children
in
preschool
age
presenting
with
developmental
delay
,
hypotonia
and
the
facial
features
we
described
here
,
for
an
earlier
CS
diagnosis
.
Diseases
Validation
Diseases presenting
"large rearrangements"
symptom
cohen syndrome
cystinuria
kallmann syndrome
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