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Cohen syndrome: report of nine cases and review of the literature, with emphasis on ophthalmic features.
[cohen syndrome]
To
review
the
clinical
features
of
reported
cases
of
Cohen
syndrome
with
a
focus
on
ophthalmic
features
and
report
nine
new
cases
.
Retrospective
case
series
and
literature
review
.
Cohen
syndrome
is
a
rare
autosomal-recessive
condition
with
about
136
reported
cases
.
The
typical
phenotype
of
Cohen
syndrome
is
variable
and
includes
mild
to
severe
psychomotor
retardation
,
microcephaly
,
a
cheerful
disposition
,
characteristic
facial
features
,
childhood
hypotonia
and
joint
laxity
,
truncal
obesity
,
intermittent
neutropenia
,
along
with
a
progressive
retinal
dystrophy
and
refractive
myopia
.
We
present
nine
cases
that
illustrate
the
typical
clinical
features
of
the
disorder
at
different
ages
,
including
a
woman
with
the
less
common
finding
of
ectopia
lentis
.
Cohen
syndrome
remains
underdiagnosed
or
misdiagnosed
by
ophthalmologists
.
Awareness
of
this
condition
among
ophthalmologists
is
important
because
the
typical
systemic
and
ophthalmologic
findings
may
lead
to
an
accurate
diagnosis
and
counseling
.
Although
diagnostic
criteria
exist
based
on
clinical
studies
of
patients
with
confirmed
VPS
13
B
(
COH
1
)
gene
mutations
,
no
minimal
clinical
diagnostic
criteria
are
widely
accepted
at
this
time
.
Diseases
Validation
Diseases presenting
"retinal dystrophy"
symptom
aniridia
coats disease
cohen syndrome
This symptom has already been validated