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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
"common finding"
symptom
adrenal incidentaloma
coats disease
cohen syndrome
cushing syndrome
dentinogenesis imperfecta
dystrophic epidermolysis bullosa
familial mediterranean fever
inclusion body myositis
systemic capillary leak syndrome
waldenström macroglobulinemia
zellweger syndrome
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